Juvenile Myelomonocytic Leukemia; Jmml

Description

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

Genes related to Juvenile Myelomonocytic Leukemia; Jmml

NF1
NRAS
DNMT3A
ASXL1
KRAS
PTPN11
SH2B3
GATA2
CSF2
RRAS2
EZH2
ZRSR2
RUNX1
RAC2
RRAS
MLLT11
SETBP1
JAK3
CBL
ARHGAP26

Clinical Features

Top most frequent phenotypes and symptoms related to Juvenile Myelomonocytic Leukemia; Jmml

Generalized hypotonia
Abnormal facial shape
Anemia
Anteverted nares
Splenomegaly
Narrow mouth
Leukemia
Myelodysplasia
Acute myeloid leukemia
Neurofibromas

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Juvenile Myelomonocytic Leukemia; Jmml have a estimated prevalence of 0.1 per 100k worldwide.

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Juvenile Myelomonocytic Leukemia; Jmml Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurofibromatosis Type 1 Deletion Test. By Athena Diagnostics Inc in United States. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Syndrome Type 1. By Center for Human Genetics, Inc in United States. NF1 Specificity 100 % Genes 5 %
Juvenile Myelomonocytic Leukemia. By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States. SH2B3, JAK3, ASXL1, SETBP1, NF1, CBL, PTPN11, NRAS, KRAS Specificity 100 % Genes 45 %
Inherited Cancer Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4 , (...) View the complete list with 29 more genes Panel GTR000528534 complete gene list CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, BLM, MEN1, TMEM127, SDHB, FH, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 5 %
VistaSeq Brain/CNS/PNS Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. SMARCB1, NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, MEN1, RB1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 5 %
VistaSeq Endrocrine Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. NF1, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, TP53, PTEN, VHL Specificity 8 % Genes 5 %
Noonan Spectrum Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SPRED1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 36 % Genes 25 %
Comprehensive Hereditary Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX , (...) View the complete list with 34 more genes Panel GTR000551352 complete gene list DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, CBL, PTPN11, BLM, SDHA, MEN1, TMEM127, ANKRD26, SDHB, FH, SDHC, RET, SDHAF2, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 10 % Genes 25 %
Noonan Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 39 % Genes 25 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel. By Genetic Services Laboratory University of Chicago in United States. RAD51, UBE2T, SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, ETV6, IKZF1, USB1 , (...) View the complete list with 59 more genes Panel GTR000558498 complete gene list RAD51, UBE2T, SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, ETV6, IKZF1, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, CTC1, PARN, TERT, TERC, DKC1, FANCB, RPS24, RPL5, RPL11, RPS10, RPS26, GATA1, NF1, SBF2, WAS, RTEL1, MPL, RAD51C, CEBPA, SBDS, PAX5, GATA2, BRIP1, CHEK2, PALB2, NBN, ATM, CBL, TINF2, RPS19, PTPN11, BLM, FANCC, ANKRD26, HAX1, RPL35A, ALAS2, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1 Specificity 7 % Genes 25 %
PulmoGene Panel (64 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...) View the complete list with 44 more genes Panel GTR000509127 complete gene list GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, CSF2RA, SMAD9, RSPH1, DOCK8, SFTPD, TERT, ELMOD2, ACVRL1, TERC, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, NF1, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, HRAS, FOXF1, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, FBN1, RPGR, DTNBP1, ELN, RET, FBLN5 Specificity 2 % Genes 5 %
Legius Syndrome (SPRED1) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SPRED1, NF1 Specificity 50 % Genes 5 %
Neurofibromatosis Type 1 (NF1) Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. NF1 Specificity 100 % Genes 5 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine26. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ABRAXAS1, XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1 , (...) View the complete list with 6 more genes Panel GTR000553155 complete gene list ABRAXAS1, XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 5 %
Autism/Intellectual Disability/Multiple Anomalies. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...) View the complete list with 69 more genes Panel GTR000327662 complete gene list ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, KMT2D, PAFAH1B1, RELN, PQBP1, DCX, MBD5, FOLR1, GABRB3, ASPM, L1CAM, FGFR1, NF1, SCN1A, MET, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, HDAC8, FGFR2, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PCDH19, NRAS, MEF2C, MAP2K1, KRAS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, FGFR3, SLC9A6, TUBA1A, MECP2, RAF1, MKKS, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 6 % Genes 25 %
Hereditary Cancer Panel - Neuro17. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. NF1, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 6 % Genes 5 %
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. NF1, CDC73, PRKAR1A, MAX, SDHD, TSC1, TSC2, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL Specificity 6 % Genes 5 %
BrainTumorNext. By Ambry Genetics in United States. DICER1, POT1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, CDKN2A, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53 , (...) View the complete list with 7 more genes Panel GTR000560499 complete gene list DICER1, POT1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, CDKN2A, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, MEN1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, APC, VHL Specificity 4 % Genes 5 %
CancerNext. By Ambry Genetics in United States. HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 14 more genes Panel GTR000560509 complete gene list HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 3 % Genes 5 %
CustomNext: Cancer. By Ambry Genetics in United States. NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C , (...) View the complete list with 48 more genes Panel GTR000560526 complete gene list NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 5 %
NF1 gene sequence and deletion/duplication. By Ambry Genetics in United States. NF1 Specificity 100 % Genes 5 %
OvaNext. By Ambry Genetics in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000560607 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 5 %
TumorNext-HRD+CancerNext. By Ambry Genetics in United States. HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 14 more genes Panel GTR000560649 complete gene list HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 3 % Genes 5 %
TumorNext-Lynch+CancerNext. By Ambry Genetics in United States. HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 17 more genes Panel GTR000560650 complete gene list HOXB13, DICER1, POLE, GREM1, POLD1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, BRAF, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 9 % Genes 15 %
TumorNext-HRD+OvaNext. By Ambry Genetics in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000560651 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 5 %
TumorNext-Lynch+OvaNext. By Ambry Genetics in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, TP53, PTEN, MUTYH , (...) View the complete list with 7 more genes Panel GTR000560657 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, NRAS, KRAS, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 12 % Genes 15 %
NF1. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NF1 Specificity 100 % Genes 5 %
Hereditary Breast, Ovarian, and Endometrial Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH , (...) View the complete list with 7 more genes Panel GTR000530255 complete gene list WRN, ITK, FANCA, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, MEN1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 5 %
Hereditary Paraganglioma/Pheochromocytoma Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 9 % Genes 5 %
Neurofibromatosis-Noonan syndrome (sequence analysis of NF1 gene). By CGC Genetics in Portugal. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis type 1 (sequence analysis of NF1 gene). By CGC Genetics in Portugal. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis type I (deletion/duplication analysis on NF1 gene). By CGC Genetics in Portugal. NF1 Specificity 100 % Genes 5 %
Psychomotor development delay (various syndromes, deletion/duplication analysis). By CGC Genetics in Portugal. NF1, MECP2 Specificity 50 % Genes 5 %
Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes). By CGC Genetics in Portugal. SMARCB1, NF1, NF2 Specificity 34 % Genes 5 %
Noonan syndrome and rasopathies (NGS panel for 13 genes). By CGC Genetics in Portugal. SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 39 % Genes 25 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes). By CGC Genetics in Portugal. GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 7 % Genes 5 %
Neurofibromatosis Type 1 (NF1) RNA. By Medical Genomics Laboratory Department of Genetics UAB in United States. NF1 Specificity 100 % Genes 5 %
NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication. By Medical Genomics Laboratory Department of Genetics UAB in United States. SPRED1, NF1 Specificity 50 % Genes 5 %
RASopathy Next Generation Sequencing and Deletion/Duplication. By Medical Genomics Laboratory Department of Genetics UAB in United States. SPRED1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 34 % Genes 25 %
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene. By PreventionGenetics PreventionGenetics in United States. NF1 Specificity 100 % Genes 5 %
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DICER1, XRCC2, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH , (...) View the complete list with 7 more genes Panel GTR000558878 complete gene list DICER1, XRCC2, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 5 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A Specificity 2 % Genes 15 %
Neurofibromatosis and related disorders NGS panel. By Connective Tissue Gene Tests in United States. SPRED1, NF1, NF2, MLH1, MSH6, MSH2 Specificity 17 % Genes 5 %
Neurofibromatosis and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. SPRED1, NF1, NF2, MLH1, MSH6, MSH2 Specificity 17 % Genes 5 %
Noonan spectrum disorder NGS panel. By Connective Tissue Gene Tests in United States. PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...) View the complete list with 5 more genes Panel GTR000559233 complete gene list PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 24 % Genes 30 %
Neurofibromatosis type I Comprehensive test. By Connective Tissue Gene Tests in United States. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis type I NGS test. By Connective Tissue Gene Tests in United States. NF1 Specificity 100 % Genes 5 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 50 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 1 % Genes 10 %
Gastrointestinal Stromal Tumor – Basic Diagnostics. By MGZ Medical Genetics Center in Germany. KIT, NF1, PRKAR1A, SDHD, SDHB, SDHC Specificity 17 % Genes 5 %
Heart Diseases - panels. By MGZ Medical Genetics Center in Germany. TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...) View the complete list with 137 more genes Panel GTR000552431 complete gene list TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, ACTC1, BMPR2, DNAH11, KDM6A, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, ABCC9, TGFBR2, TGFBR1, NOTCH1, FOXH1, NODAL, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNE1, TBX1, ZEB2, KMT2D, SCN5A, KCNH2, LARGE1, CHKB, KCNJ2, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, SGCG, POMGNT1, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, CHD7, BRAF, KCNQ1, SDHA, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, CPT1A, COX15, TAZ, SCO2, GFM1, PNPLA2, SLC25A3, TMEM70, AGK, MTO1, FBN1, VCP, RAF1, CRYAB, DSP, JAG1, GNE, CPT2, ELN, GAA, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2, TTR Specificity 4 % Genes 30 %
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center in Germany. GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...) View the complete list with 323 more genes Panel GTR000552438 complete gene list GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, CTC1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 3 % Genes 45 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center in Germany. PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...) View the complete list with 322 more genes Panel GTR000552442 complete gene list PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 3 % Genes 45 %
Gastrointestinal Stromal Tumor. By MGZ Medical Genetics Center in Germany. KIT, SMARCB1, NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, SDHAF2 Specificity 10 % Genes 5 %
Breast Cancer. By MGZ Medical Genetics Center in Germany. CEP57, BUB1B, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, NF1, RAD51D, RAD51C, BRIP1, CHEK2, SDHD, STK11, CDH1 , (...) View the complete list with 17 more genes Panel GTR000521110 complete gene list CEP57, BUB1B, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, FANCB, NF1, RAD51D, RAD51C, BRIP1, CHEK2, SDHD, STK11, CDH1, PALB2, NBN, ATM, BLM, FANCC, SDHB, FH, SDHC, TP53, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1 Specificity 3 % Genes 5 %
Neurofibromatosis 1. By Bioscientia GmbH Center for Human Genetics in Germany. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis 1. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. NF1 Specificity 100 % Genes 5 %
Cancer Hotspot Panel. By Centogene AG - the Rare Disease Company in Germany. MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...) View the complete list with 68 more genes Panel GTR000527970 complete gene list MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO, CDKN2B, ERBB2, DDR2, MDM2, CCND1, KDR, PDGFRB, CDK6, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, MYCN, PIK3CA, GNAS, JAK3, KIT, SMARCB1, EZH2, NOTCH1, ATR, MTOR, CTNNB1, FGFR1, NF1, NTRK1, MPL, SMAD4, MET, CDKN2A, CDK4, STK11, CDH1, NF2, PTCH1, ATM, ALK, TSC1, TSC2, FGFR2, PTPN11, NRAS, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, GNAT2, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 7 % Genes 30 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 35 %
Neurofibromatosis type I. By Centogene AG - the Rare Disease Company in Germany. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis, Type 1. By bio.logis Center for Human Genetics Diagnosticum in Germany. NF1 Specificity 100 % Genes 5 %
Pheochromocytoma and Paraganglioma Panel. By CeGaT GmbH in Germany. CDKN1B, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 8 % Genes 5 %
Genetic disorders with abnormal pigmentation Panel. By CeGaT GmbH in Germany. ADAM10, POFUT1, POGLUT1, ENPP1, HJV, HAMP, TFR2, EPG5, SLC40A1, KRT14, MLPH, RAB27A, MYO5A, KITLG, KIT, ADAR, LYST, MITF, SPRED1, SOX10 , (...) View the complete list with 12 more genes Panel GTR000522378 complete gene list ADAM10, POFUT1, POGLUT1, ENPP1, HJV, HAMP, TFR2, EPG5, SLC40A1, KRT14, MLPH, RAB27A, MYO5A, KITLG, KIT, ADAR, LYST, MITF, SPRED1, SOX10, SNAI2, EDNRB, PAX3, EDN3, NF1, STK11, NF2, PTPN11, BLM, ABCB6, KRT5, HFE Specificity 7 % Genes 10 %
RASopathies Panel. By CeGaT GmbH in Germany. CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 3 more genes Panel GTR000522382 complete gene list CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 27 % Genes 30 %
RASopathies Panel. By CeGaT GmbH in Germany. CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 3 more genes Panel GTR000522477 complete gene list CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 27 % Genes 30 %
Neurofibromatosis type I (von Recklinghausen`s Disease). By Laboratory of Human Genetics GENOMED Health Care Center in Poland. NF1 Specificity 100 % Genes 5 %
NF1. By Innovagenomics Innovagenomics S.L in Spain. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis 1 (NF1). By MVZ Dortmund Dr. Eberhard & Partner in Germany. NF1 Specificity 100 % Genes 5 %
Cardiovascular Diseases_General Panel. By Health in Code in Spain. CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...) View the complete list with 360 more genes Panel GTR000530651 complete gene list CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE Specificity 2 % Genes 30 %
Arrhythmia General Panel. By Health in Code in Spain. GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...) View the complete list with 198 more genes Panel GTR000530668 complete gene list GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, AGPAT2, GJA5, NPPA, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, GJA1, TBX5, NOS1AP, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, KCNK3, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, SCN4B, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 25 %
Congenital heart diseases Panel. By Health in Code in Spain. ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...) View the complete list with 56 more genes Panel GTR000530669 complete gene list ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6, ACVR2B, CRELD1, LEFTY2, CITED2, EVC, GATA4, GDF1, ZIC3, GJA1, EP300, TBX5, SALL4, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, ACVR1, MYH11, ACTA2, SMAD3, NOTCH1, FOXH1, NODAL, EHMT1, FOXP1, MED12, TBX1, KANSL1, KMT2D, FLNA, MYBPC3, MYH7, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, CHD7, BRAF, RAF1, NPHP4, JAG1, PITX2, FOXC1, EYA4, ELN Specificity 7 % Genes 25 %
RASopathies Panel. By Health in Code in Spain. A2ML1, RRAS, RASA2, SPRED1, LZTR1, NF1, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 28 % Genes 25 %
Neurofibromatosis I. By Praxis fuer Humangenetik Wien in Austria. NF1 Specificity 100 % Genes 5 %
Watson syndrome. By Praxis fuer Humangenetik Wien in Austria. NF1 Specificity 100 % Genes 5 %
LEGIUS SYNDROME - SPRED1 gene. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. SPRED1, NF1 Specificity 50 % Genes 5 %
NEUROFIBROMATOSIS TYPE 1 - NF1 gene. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. SPRED1, NF1 Specificity 50 % Genes 5 %
qChip. By Quantitative Genomic Medicine Laboratories, SL in Spain. SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...) View the complete list with 106 more genes Panel GTR000521292 complete gene list SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA, SATB2, EP300, TBX5, SALL4, LHX4, NR5A1, SH2D1A, NKX2-5, TP63, MITF, SNRPN, GLI3, TGFBR2, TGFBR1, ZIC2, TGIF1, SOX9, TWIST1, IL1RAPL1, SOX3, CLCNKA, EHMT1, GATA3, PAX3, SALL1, SHANK3, ZEB2, PAK3, OFD1, ADGRG1, PAFAH1B1, RELN, SIX3, EMX2, DCX, PKD1, COL4A5, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, ANOS1, CASR, SHOX, NR0B1, NF1, AHI1, MAPT, SCN1A, PMP22, BTK, SMAD4, BMPR1A, NF2, PTCH1, NSD1, NIPBL, SMC1A, TSC2, MAP2K2, SRY, SOS1, RUNX2, RAI1, PTPN11, PLP1, MAP2K1, KRAS, DHCR7, CHD7, CDKL5, BRAF, ARX, LMX1B, SOX2, TIMM8A, GK, HCCS, OTC, RS1, FBN1, MECP2, SHH, CEP290, NPHP1, NDP, JAG1, PITX2, OCRL, ELN, HNF1B, LEMD3, RB1, PAX6, WT1, APP, OCA2, COL2A1, EYA1, FOXL2, TP53, PTEN, APC, UBE3A, FMR1 Specificity 3 % Genes 15 %
qCancer Risk. By Quantitative Genomic Medicine Laboratories, SL in Spain. POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53 , (...) View the complete list with 10 more genes Panel GTR000552849 complete gene list POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 4 % Genes 5 %
qCancer Risk Expanded. By Quantitative Genomic Medicine Laboratories, SL in Spain. POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1 , (...) View the complete list with 25 more genes Panel GTR000552850 complete gene list POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, TSC1, TSC2, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 5 %
qCancer Gine. By Quantitative Genomic Medicine Laboratories, SL in Spain. POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...) View the complete list with 4 more genes Panel GTR000552856 complete gene list POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 5 %
Watson syndrome. By MedGene in Slovakia. NF1 Specificity 100 % Genes 5 %
Invitae Breast Cancer Panel. By Invitae in United States. NF1, BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 8 % Genes 5 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI). By Invitae in United States. DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11 , (...) View the complete list with 22 more genes Panel GTR000528518 complete gene list DICER1, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, STK11, CDH1, PALB2, NBN, ATM, TSC1, TSC2, SDHA, MEN1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 5 %
Invitae Gastric Cancer Panel. By Invitae in United States. PDGFRA, KIT, NF1, SMAD4, BMPR1A, SDHD, STK11, CDH1, SDHA, SDHB, SDHC, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 6 % Genes 5 %
Invitae Congenital Heart Defects and Heterotaxy Panel. By Invitae in United States. MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...) View the complete list with 62 more genes Panel GTR000528542 complete gene list MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, NOTCH1, FOXH1, NODAL, TBX1, OFD1, NF1, GPC3, NSD1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CHD7, BRAF, ALMS1, BBS10, MKS1, BCOR, CCDC39, RPGR, RAF1, TTC8, CEP290, NPHP3, JAG1, ELN, INVS Specificity 7 % Genes 25 %
Invitae Multi-Cancer Panel. By Invitae in United States. DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...) View the complete list with 60 more genes Panel GTR000528909 complete gene list DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF, CASR, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 15 %
Invitae Breast Cancer Guidelines-Based Panel. By Invitae in United States. NF1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 10 % Genes 5 %
Invitae Breast and Gyn Cancers Guidelines-Based Panel. By Invitae in United States. NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 6 % Genes 5 %
Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel. By Invitae in United States. PDGFRA, KIT, NF1, SDHD, SDHA, SDHB, SDHC Specificity 15 % Genes 5 %
Invitae Pediatric Nervous System/Brain Tumors Panel. By Invitae in United States. DICER1, SMARCB1, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2 , (...) View the complete list with 4 more genes Panel GTR000551798 complete gene list DICER1, SMARCB1, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 5 % Genes 5 %
Invitae Pediatric Hematologic Malignancies Panel. By Invitae in United States. TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM Specificity 19 % Genes 15 %
Invitae Myelodysplastic Syndrome/Leukemia Panel. By Invitae in United States. TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM Specificity 19 % Genes 15 %
Invitae Pancreatic Cancer Panel. By Invitae in United States. NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 5 %
Invitae Breast and Gyn Cancers Panel. By Invitae in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2 , (...) View the complete list with 3 more genes Panel GTR000514929 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 5 %
Invitae Overgrowth and Macrocephaly Syndromes Panel. By Invitae in United States. NPR2, DIS3L2, KPTN, AKT3, PIK3R2, AKT2, GLI3, EZH2, NFIX, DNMT3A, SPRED1, MED12, CUL4B, PHF6, SETD2, NF1, GPC3, CDKN1C, NSD1, PTEN Specificity 15 % Genes 15 %
Neurofibromatosis type I: NF1 gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NF1 Specificity 100 % Genes 5 %
COLON, BREAST AND OVARIAN CANCER. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MLH3, AXIN2, XRCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, KRAS , (...) View the complete list with 11 more genes Panel GTR000531571 complete gene list MLH3, AXIN2, XRCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, KRAS, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, BRCA2, BRCA1 Specificity 7 % Genes 10 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 30 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2 Specificity 1 % Genes 15 %
Paraganglioma-Pheochromocytomas NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EGLN1, NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 9 % Genes 5 %
Neurofibromatosis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SPRED1, NF1, NF2 Specificity 34 % Genes 5 %
NF1. By Fulgent Genetics Fulgent Genetics in United States. NF1 Specificity 100 % Genes 5 %
Focus Cancer Panel - 40 Genes. By Fulgent Genetics Fulgent Genetics in United States. RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...) View the complete list with 20 more genes Panel GTR000529345 complete gene list RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, FANCC, MEN1, RET, TP53, PTEN, MUTYH, MLH1, POLD1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 5 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 30 %
Nervous System / Brain Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000531708 complete gene list DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ATM, ALK, TSC1, TSC2, HRAS, MEN1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 4 % Genes 5 %
Pancreatic Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. NF1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...) View the complete list with 2 more genes Panel GTR000531710 complete gene list NF1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 5 %
Breast Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. XRCC2, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 6 % Genes 5 %
Sarcoma Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4 , (...) View the complete list with 6 more genes Panel GTR000531719 complete gene list DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 4 % Genes 5 %
Paraganglioma-Pheochromocytoma Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 5 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB , (...) View the complete list with 14 more genes Panel GTR000552183 complete gene list POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB, SDHC, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 5 %
NF1 Sequencing and Deletion/Duplication. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. NF1 Specificity 100 % Genes 5 %
N-FIBRON. By PentaCoreLab in Hungary. NF1, NF2 Specificity 50 % Genes 5 %
Hereditary Leukemia Panel. By Blueprint Genetics in Finland. DDX41, SAMD9L, ETV6, IKZF1, SRP72, FANCA, TERT, TERC, DKC1, NF1, CEBPA, SBDS, PAX5, GATA2, CDKN2A, NBN, ATM, CBL, MAP2K2, RIT1 , (...) View the complete list with 19 more genes Panel GTR000552800 complete gene list DDX41, SAMD9L, ETV6, IKZF1, SRP72, FANCA, TERT, TERC, DKC1, NF1, CEBPA, SBDS, PAX5, GATA2, CDKN2A, NBN, ATM, CBL, MAP2K2, RIT1, TINF2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, ANKRD26, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 18 % Genes 35 %
Comprehensive Hereditary Cancer Panel. By Blueprint Genetics in Finland. REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...) View the complete list with 126 more genes Panel GTR000552807 complete gene list REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L, POT1, AIP, ELANE, EXT1, EXT2, AXIN2, POLE, ETV6, IKZF1, PDGFRA, EGFR, GREM1, POLD1, SRP72, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KITLG, KIT, SMARCB1, SMARCA4, TERT, TERC, MITF, EZH2, RRAS, RASA2, NSUN2, SPRED1, DKC1, FANCB, LZTR1, ERCC3, ERCC2, NF1, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, RIT1, POLH, XPC, SOS2, TINF2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, SDHA, MEN1, TMEM127, ANKRD26, SDHB, FH, RAF1, SDHC, RET, SDHAF2, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 7 % Genes 45 %
Hereditary Pancreatic Cancer Panel. By Blueprint Genetics in Finland. BUB1B, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL , (...) View the complete list with 2 more genes Panel GTR000552822 complete gene list BUB1B, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, FANCC, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 5 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12, F10, TRNT1, RNF168, CLPB, EGLN1, DDX41, REN, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, SAMD9L, SAMD9, DNAJC21, EPAS1, PGM3, EPOR, ACD, F7, VKORC1, JAGN1, PROC, WIPF1, FADD, PROS1, LPIN2, C15orf41, GSS, TPI1, RHAG, EPB42, ANK1, SPTA1, SPTB, EPB41, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK, STXBP2, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, GP1BB, SLC4A1, IFNGR2, CSF3R, ETV6, IKZF1, JAK2, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2, NBEAL2, P2RY12, FGG, TBXA2R, RAB27A, MYO5A, GGCX, FGB, FGA, GP1BA, SLC46A1, USB1, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, ABCG8, ABCG5, FANCE, FANCF, FANCG, FANCA, ADAMTS13, F8, F9, NOP10, NHP2, WRAP53, CTC1, THBD, VWF, F11, SH2D1A, SFTPB, SFTPC, ABCA3, CSF2RA, PARN, TERT, TERC, LYST, BLOC1S6, CTSC, ATR, DKC1, FANCB, MAGT1, SEC23B, CDAN1, PKLR, RPS24, RPL5, RPL11, RPS10, RPS26, KLF1, GATA1, PIEZO1, MYH9, SLC19A2, ACTB, VPS13B, ATRX, FLNA, NF1, WAS, RTEL1, MPL, HBA2, G6PD, HBA1, RAD51C, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, CDKN2A, PALB2, NBN, ATM, CBL, MAP2K2, RIT1, TINF2, SOS1, RPS19, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, PDHX, ANKRD26, SLC25A38, CYB5R3, CUBN, NT5C3A, AK2, TCN2, ABCB7, PDHA1, PUS1, AP3B1, HAX1, CYCS, RPL35A, GPI, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, ALAS2, DTNBP1, CLCN7, GPR143, SLC37A4, TYR, MTR, SLC45A2, AMN, OCA2, TYRP1, HBB, PC, YARS2, TP53, RUNX1, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, HFE, F5, F2, BRCA2, BRCA1 Specificity 4 % Genes 40 %
Bone Marrow Failure Syndrome Panel. By Blueprint Genetics in Finland. ERCC6L2, SMARCD2, RPS29, DDX41, SAMD9L, SAMD9, DNAJC21, PGM3, ACD, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK , (...) View the complete list with 102 more genes Panel GTR000552680 complete gene list ERCC6L2, SMARCD2, RPS29, DDX41, SAMD9L, SAMD9, DNAJC21, PGM3, ACD, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK, STXBP2, XIAP, ELANE, STX11, FAS, UNC13D, IFNGR2, CSF3R, ETV6, IKZF1, RAB27A, MYO5A, USB1, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, CTC1, SH2D1A, CSF2RA, TERT, TERC, LYST, BLOC1S6, CTSC, ATR, DKC1, FANCB, MAGT1, RPS24, RPL5, RPL11, RPS10, RPS26, GATA1, ACTB, VPS13B, NF1, WAS, RTEL1, MPL, RAD51C, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, CDKN2A, PALB2, NBN, ATM, CBL, MAP2K2, RIT1, TINF2, SOS1, RPS19, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, ANKRD26, AK2, AP3B1, HAX1, RPL35A, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, SLC37A4, TP53, RUNX1, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 7 % Genes 40 %
Comprehensive Cardiology Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...) View the complete list with 165 more genes Panel GTR000552682 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1, CTNNA3, SCN10A, ENPP1, NUP155, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, SALL4, NOS1AP, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, PRDM16, TGFB3, ACTC1, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, ABCC6, ACTA2, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNQ1, KCNE1, VPS13A, EEF1A2, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LARGE1, LAMA2, KCNJ2, SMCHD1, ISPD, SGCD, TCAP, POMT1, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 4 % Genes 30 %
Hereditary Gastrointestinal Cancer Panel. By Blueprint Genetics in Finland. NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1 , (...) View the complete list with 19 more genes Panel GTR000552736 complete gene list NTHL1, RHBDF2, BUB1B, AXIN2, POLE, PDGFRA, GREM1, POLD1, KIT, SMARCB1, NF1, SMAD4, BMPR1A, SDHD, CDKN2A, STK11, CDH1, PALB2, ATM, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 5 %
Interstitial Lung Disease Panel. By Blueprint Genetics in Finland. SLC34A2, ITGA3, SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, CSF2RA, PARN, TERT, ELMOD2, TERC, DKC1, NF1, RTEL1, SLC7A7, TSC1, TSC2 , (...) View the complete list with 5 more genes Panel GTR000552741 complete gene list SLC34A2, ITGA3, SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, CSF2RA, PARN, TERT, ELMOD2, TERC, DKC1, NF1, RTEL1, SLC7A7, TSC1, TSC2, TINF2, STAT3, HPS4, HPS1, SMPD1 Specificity 4 % Genes 5 %
Hereditary Endocrine Cancer Panel. By Blueprint Genetics in Finland. DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN , (...) View the complete list with 2 more genes Panel GTR000552750 complete gene list DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN, APC, VHL Specificity 5 % Genes 5 %
Hereditary Breast and Gynecological Cancer Panel. By Blueprint Genetics in Finland. DICER1, XRCC2, FANCM, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, BLM, TP53, PTEN , (...) View the complete list with 7 more genes Panel GTR000552754 complete gene list DICER1, XRCC2, FANCM, SMARCA4, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, BLM, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 5 %
Comprehensive Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...) View the complete list with 226 more genes Panel GTR000558787 complete gene list CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, TBX3, MATN3, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, WNT5A, CSPP1, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, AKT1, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, GJA1, GNAS, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, EBP, FANCB, PTH1R, CANT1, WDR35, KAT6B, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, LBR, SETBP1, ANKRD11, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, RNU4ATAC, NF1, LMNA, TRPV4, SLC26A2, PEX7, PRKAR1A, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PTPN11, IDS, CREBBP, COL10A1, FANCC, FGFR3, ARSB, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 2 % Genes 20 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9, WDR34, FAM83H, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, MAFB, INPPL1, SNX10, MMP13, DLX3, EOGT, DDR2, IGF1R, TBX3, MATN3, IGF1, TRAPPC2, GDF5, PTHLH, RBPJ, DOCK6, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, FAM20A, GALNT3, ARHGAP31, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, CLCN5, ENPP1, FAM111A, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, CDC45, CEP63, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, CCNQ, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RTTN, WNT5A, CSPP1, SRCAP, IFT172, TCTN3, PGM3, NOTCH2, SMARCAL1, MGP, STAT5B, EXT1, EXT2, AKT1, INSR, VIPAS39, DHCR24, EIF2AK3, IFT122, B3GALT6, MYCN, RBBP8, PIK3CA, EVC2, EVC, IFT80, IFT43, KIF7, TTC21B, SLC29A3, BGN, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, GJA1, GNAS, TRIM37, GNPAT, SH3BP2, EFTUD2, EFNB1, EP300, ALX4, LHX3, LHX4, TBX19, STAMBP, KMT2A, WDR19, TGFB3, BMPR1B, SH3PXD2B, LTBP2, IFT140, TP63, GLI3, EZH2, NFIX, ACVR1, CHST14, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, DYM, ADAMTSL2, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX9, COMP, TWIST1, MSX2, POR, NSDHL, SOX3, EBP, FANCB, MBTPS2, PTH1R, CANT1, WDR35, KAT6B, PEX19, PEX14, LZTR1, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, ACTG1, ACTB, LBR, SETBP1, FGD1, ANKRD11, FLNA, CENPJ, HSPG2, ANO5, FGF23, PHEX, GHR, GH1, POU1F1, CASR, SHOX, FGFR1, GHRHR, NF1, LMNA, TRPV4, SLC26A2, PEX7, PROP1, PRKAR1A, ACP5, SBDS, SMAD4, CDKN1C, NSD1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, FGFR2, VDR, SOS1, SHOC2, RUNX2, RMRP, PTPN11, NRAS, MAP2K1, KRAS, IDS, HRAS, DHCR7, CREBBP, COL10A1, BRAF, FANCC, FGFR3, ARSB, COL5A2, COL5A1, LMX1B, HESX1, SOX2, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AIFM1, AGPS, PLOD2, CRTAP, P3H1, SLC39A13, SP7, SERPINF1, FBN1, RAF1, OTX2, PITX2, ATP6V0A2, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, BCS1L, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 3 % Genes 40 %
Solid Tumor Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...) View the complete list with 102 more genes Panel GTR000515819 complete gene list BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2, KEAP1, ERBB4, PPP2R1A, FAT1, RXRA, MYC, MN1, AFF3, ERBB2, DDR2, CDK12, CCND1, MAP3K3, KDR, FLT1, PDGFRB, CDK6, NTRK2, NOTCH2, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, FLT3, AKT2, POLD1, CSF1R, PIK3CA, GATA4, CDKN1B, BAP1, FANCA, SMAD2, GNAS, KIT, FLT4, TEK, SMARCB1, SMARCA4, ERBB3, TERT, TGFBR2, NOTCH1, MTOR, SPRED1, CTNNB1, MED12, ERCC2, KDM5C, ATRX, SETD2, KMT2D, FGFR1, NF1, NTRK1, BRIP1, SMAD4, CHEK2, MET, CDKN2A, STK11, CDH1, PALB2, NF2, ATM, ALK, TSC1, TSC2, MAP2K2, RIT1, FGFR2, SOS1, SHOC2, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, AR, FGFR3, IDH2, RAF1, RET, RB1, WT1, PPARG, FOXL2, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 15 %
Head & Neck Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4 , (...) View the complete list with 21 more genes Panel GTR000553952 complete gene list RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4, ASXL1, EP300, KDM6A, TGFBR2, NOTCH1, MTOR, KMT2D, NF1, SMAD4, CDKN2A, ATM, NSD1, NRAS, KRAS, HRAS, RB1, TP53, PTEN, APC, BRCA2, BRCA1 Specificity 10 % Genes 20 %
Thoracic Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1 , (...) View the complete list with 16 more genes Panel GTR000553982 complete gene list KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1, NTRK1, MET, CDKN2A, STK11, ATM, ALK, TSC1, TSC2, RIT1, NRAS, KRAS, HRAS, BRAF, RET, RB1, TP53 Specificity 9 % Genes 15 %
NF1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. NF1 Specificity 100 % Genes 5 %
Rapid microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...) View the complete list with 153 more genes Panel GTR000525320 complete gene list CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, CNTNAP2, TCF4, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1 Specificity 1 % Genes 5 %
High-Resolution Rapid Microarray (CGH and SNP). By Allele Diagnostics Allele Diagnostics in United States. CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...) View the complete list with 153 more genes Panel GTR000560671 complete gene list CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, CNTNAP2, TCF4, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1 Specificity 1 % Genes 5 %
iGene Cancer Panel. By ApolloGen, Inc. in United States. NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...) View the complete list with 5 more genes Panel GTR000525919 complete gene list NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 5 %
FoundationOne® Heme. By Foundation Medicine, Inc. in United States. TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...) View the complete list with 385 more genes Panel GTR000527977 complete gene list TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2, ID3, KDM2B, JAK1, JUN, KDM4C, KLHL6, IKBKE, INPP4B, IKZF3, HSP90AA1, JARID2, LRP1B, LEF1, APH1A, BCL2L2, AURKB, ARFRP1, ARHGAP26, MDM4, MAP2K4, MAGED1, BTLA, MCL1, EMSY, BCL7A, MKI67, BTG2, CHEK1, NUP98, PCLO, PCBP1, PASK, PDCD1, PBRM1, DAXX, PDCD11, PDCD1LG2, EPHB1, EPHA3, EBF1, DOT1L, EPHA5, ECT2L, EPHA7, FGF6, FBXO11, FAF1, ERG, FHIT, TENT5C, ETS1, FRS2, FOXO3, GADD45B, CD274, MYO18A, CCT6B, CDK8, CCND3, CD22, NOD1, CD58, GSK3B, IRF1, IRF4, IRS2, PIK3CG, CRKL, MAPK1, MAP3K14, AXIN1, CRLF2, INHBA, XBP1, BCL10, IRF8, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, RICTOR, KDM5A, EED, ERBB4, PPP2R1A, MAP3K7, ELP2, CIC, AXL, CD70, CAD, NUP93, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, CDKN2B, PTPRO, TCF3, RARA, CBFB, ERBB2, MSH3, MAFB, DDR2, MDM2, IGF1R, MALT1, CDK12, HDAC4, BCL2, CCND1, MIB1, KAT6A, DDX3X, CD79B, CD79A, B2M, PLCG2, NCSTN, TNFAIP3, KDR, FLT1, WISP3, NSD2, RAD51, PDGFRB, CTCF, FBXO31, CDK6, SRC, ICK, MAP3K1, CCND2, NTRK2, CARD11, POT1, TRAF3, NOTCH2, TYK2, PRKDC, PIK3R1, CIITA, NFKBIA, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, IL7R, BCORL1, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, CD36, GNAQ, AKT2, CSF1R, MYCN, PIK3CA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, TGFBR2, NOTCH1, ATR, MTOR, ZMYM3, TAF1, GATA1, CTNNB1, FOXP1, MED12, S1PR2, GATA3, FGF3, SOX10, HGF, ACTB, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, RELN, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, LRRK2, NF1, NTRK1, DNM2, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, TMSB4X, GID4, SERP2, ZNF703, FLYWCH1, PAG1, MEF2B, GNA12, EXOSC6, DUSP9, AURKA, TOP1, P2RY8, MAP3K6, FGF4, SMARCA1, SUZ12, DUSP2, NCOR2, DTX1, ASMTL, BRSK1, FGF19, RHOA, BCL11B, FOXO1, ADGRA2, PTPN6, PTPN2, RASGEF1A, PRSS8, SGK1, STAT6, SOCS3, TCL1A, SOCS2, SPEN, SOCS1, STAT5A, SPOP, STAT4, YY1AP1, ZNF24, WDR90, TLL2, XPO1, ZNF217, TMEM30A, TRAF2, TNFRSF17, TNFRSF14, U2AF2, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MEF2C, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, BCOR, AMER1, TUSC3, SDHB, IDH2, RAF1, SDHC, CPS1, TNFRSF11A, RET, RB1, WT1, HNF1A, FOXL2, PC, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 70 %
NeoTYPE® Discovery Profile for Solid Tumors. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...) View the complete list with 295 more genes Panel GTR000558437 complete gene list IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5, EPHA7, FGF6, ERRFI1, ERG, TENT5C, FRS2, GABRA6, FUBP1, CD274, CDH4, CDK8, CCND3, CDKN1A, GSK3B, GRM3, IRF4, IRS2, HSD3B1, PIK3CG, CRKL, PIK3CB, EP300-AS1, AXIN1, CRLF2, INHBA, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, IGF2, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, CIC, AXL, NUP93, FAT1, RNF43, CDKN2C, MYC, BCL6, SMO, CDKN2B, RARA, SNCAIP, CBFB, ERBB2, DDR2, MDM2, IGF1R, ABL2, CDK12, TBX3, BCL2, CCND1, KAT6A, KEL, CD79B, CD79A, CUL3, PLCG2, LYN, TNFAIP3, KDR, FLT1, CYLD, WISP3, RAD51, PDGFRB, DICER1, CTCF, CDK6, RUNX1T1, SRC, MAP3K1, CCND2, NTRK2, CARD11, NOTCH2, PRKDC, PIK3R1, RANBP2, NFKBIA, SPTA1, FAS, AKT1, AKT3, PIK3R2, GNA11, POLE, IL7R, BCORL1, FBXW7, IKZF1, MYD88, PDGFRA, SF3B1, STAG2, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, GATA6, AKT2, POLD1, CSF1R, MYCN, PIK3CA, GATA4, VEGFA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, FGF10, FLT4, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, TERT, TERC, CTNNA1, KDM6A, MITF, EZH2, DNMT3A, TGFBR2, SMAD3, NOTCH1, ATR, MTOR, SOX9, TAF1, RBM10, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, HGF, KDM5C, PAK3, ATRX, SETD2, MAGI2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, NF1, NOTCH3, NTRK1, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, PRKN, BCOR, AMER1, SDHB, IDH2, FH, RAF1, SDHC, RET, RB1, WT1, HNF1A, FOXL2, TP53, RUNX1, IDH1-AS1, GID4, ZNF703, MEF2B, AURKA, TOP1, FGF4, FGF19, BCL2L1, H3F3A, BTG1, ADGRA2, ACVR1B, QKI, PRSS8, SYK, SPEN, SLIT2, SOCS1, SPOP, STAT4, XPO1, ZBTB2, ZNF217, TNFRSF14, TOP2A, PIK3C2B, PRKCI, PREX2, PRDM1, JAK1, JUN, KLHL6, IRF2, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 56 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences in United States. ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...) View the complete list with 571 more genes Panel GTR000560898 complete gene list ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK, TCL1A, SPECC1, SPEN, SNX29, SOCS1, SPOP, SSX1, SS18, STAT4, SRGAP3, TCEA1, SRSF3, ZNF331, THRAP3, NSD3, TFRC, SEPT5, TFPT, WWTR1, XPO1, ZNF217, ZNF521, ZMYM2, TRIM27, TLX3, TNFRSF17, TTL, TPR, TRAF7, TRRAP, TNFRSF14, TRIM26, VEGFB, USP6, TMPRSS2, VTI1A, PLAG1, PRCC, POU2AF1, PIM1, POU5F1, PRDM1, HERPUD1, HIST1H3B, HEY1, JAK1, JUN, HOOK3, HOXA9, KLHL6, IL6ST, JAZF1, IKBKE, HSP90AB1, HSP90AA1, KLK2, ASPSCR1, LRP1B, LCP1, LGR5, LPP, ARNT, BCL2L11, ARHGEF12, BCL2L2, AURKB, LMO1, KTN1, ATF1, LRIG3, LASP1, ARFRP1, ARHGAP26, LHFPL6, AFDN, MLLT11, MDM4, MLLT10, MAP2K4, BCL9, BRD3, MRTFA, MCL1, EMSY, MAML2, WDCP, BCL7A, MSN, NUTM1, CARS, CHCHD7, CHEK1, CHIC2, CNOT3, NUP98, OMD, CRTC1, CRTC3, COPB1, CNTRL, PDE4DIP, DDX6, PATZ1, PCSK7, DDX5, PDCD1, PBRM1, DDIT3, DAXX, PAFAH1B2, DDX10, PDCD1LG2, EPHB1, ELK4, PER1, EIF4A2, EPHA3, EBF1, DOT1L, EPHA5, EPS15, ECT2L, ELF4, FEV, FGF6, FCRL4, ERC1, FBXO11, ERG, FHIT, TENT5C, FOXO4, FOXO3, MTCP1, HOXD11, HIST1H4I, TLX1, CCDC6, CBFA2T3, FSTL3, RMI2, TPM4, C15orf65, OLIG2, COX6C, HLF, MLLT6, SEPT6, TAL2, HOXC11, LMO2, FNBP1, RAP1GDS1, FGFR1OP, MDS2, LYL1, SFPQ, GMPS, WIF1, TRIM33, H3F3B, GID4, ZNF703, MEF2B, AURKA, TOP1, P2RY8, FGF4, SUZ12, FGF19, H3F3A, KLF4, BCL11B, NUTM2B, ETV4, TFEB, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, CD74, RAC1, RICTOR, RALGDS, KDM5A, ATP1A1, ERBB4, PPP2R1A, CLTC, SLC34A2, CIC, TET1, BCL11A, AXL, NONO, CLTCL1, PRRX1, NUP93, RNF43, HOXC13, CDKN2C, MECOM, RPN1, BIRC3, MYC, BCL6, SMO, YWHAE, CDKN2B, MLLT1, CLP1, MLLT3, MN1, NUP214, AFF3, TAL1, ZBTB16, FIP1L1, PBX1, TCF3, RARA, ERCC1, CBFB, ERBB2, HNRNPA2B1, PICALM, NUMA1, DEK, PML, CHN1, MAFB, RNF213, GPHN, DDR2, MDM2, IGF1R, ETV5, MALT1, IL21R, ABL2, DDB2, CDK12, BCL2, CCND1, XPC, KAT6A, CD79B, CD79A, TRIP11, LIFR, KIAA1549, KDSR, TNFAIP3, ZNF384, KDR, FLT1, CYLD, HOXD13, WISP3, NSD2, BUB1B, RAD51, XPA, ERCC5, CAMTA1, ATP2B3, PDGFB, PDGFRB, DICER1, PAX8, WRN, TCF12, NIN, CTCF, EZR, KNL1, CDK6, MUC1, FLI1, RUNX1T1, SRC, MAP3K1, HOXA13, CCND2, MNX1, NTRK2, AFF4, CARD11, POT1, NOTCH2, PRKDC, PIK3R1, CTLA4, NFKB2, CIITA, NFKBIA, BCR, PTPRC, STAT5B, ITK, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, GNA11, IL7R, CBLC, BCORL1, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, HOXA11, GNAQ, AKT2, CSF1R, GAS7, FUBP1, NCOA2, CD274, NCOA1, CDK8, CCND3, NFIB, MYB, CDH11, CCNB1IP1, CDX2, NACA, NCKIPSD, GOPC, GSK3B, TCF7L2, GOLGA5, HIP1, HMGA2, IRF4, HMGA1, PCM1, IRS2, CREB1, RBM15, FOXA1, PIK3CG, CRKL, PAX7, RHOH, TAF15, EWSR1, UBR5, AXIN1, ABI1, CRLF2, MLF1, INHBA, LCK, IL2, BCL10, ESR1, SS18L1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, KIF5B, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, MYCN, PIK3CA, ERCC4, VEGFA, CDKN1B, BAP1, CYP2D6, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, CREB3L1, GNAS, CALR, SH2B3, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ARID2, ERBB3, PRDM16, NKX2-1, TERT, MAF, CTNNA1, TFG, KDM6A, AKAP9, KCNJ5, MITF, EZH2, DNMT3A, MYH11, TGFBR2, NOTCH1, ATR, MTOR, RPL10, CANT1, RPL5, GATA1, KAT6B, CTNNB1, FOXP1, MED12, MYH9, GATA3, FGF3, SOX10, PAX3, ERCC3, ERCC2, HGF, CACNA1D, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, STIL, GRIN2A, FGF14, TPM3, FUS, PDK1, FGF23, FGFR1, NF1, CNBP, NTRK1, DNM2, NDRG1, BTK, WAS, MPL, PMS1, BARD1, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, MEN1, STAT3, SEPT9, NCOA4, SOX2, BCOR, AMER1, ATIC, ALDH2, SDHB, IDH2, FH, RAF1, POLE, SDHC, CASP8, ELN, RET, SDHAF2, RB1, WT1, COL1A1, PPARG, HNF1A, FOXL2, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 80 %
OmniSeq Comprehensive. By OmniSeq, Inc. in United States. NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...) View the complete list with 124 more genes Panel GTR000552042 complete gene list NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2, MCL1, MAGOH, CSNK2A1, DCUN1D1, PDCD1LG2, ERG, CD274, MYO18A, IFITM3, CD44, MAPK1, ESR1, FGFR4, NTRK3, MYCL, ROS1, ARAF, NFE2L2, CCNE1, IL6, RAC1, ERBB4, PPP2R1A, AXL, BIRC3, MYC, SMO, ERBB2, DDR2, MDM2, IGF1R, ETV5, CCND1, KDR, CDK6, SRC, NTRK2, PIK3R1, AKT1, AKT3, GNA11, FBXW7, IDH1, MYD88, PDGFRA, SF3B1, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, MYCN, PIK3CA, BAP1, GNAS, JAK3, KIT, SMARCB1, ERBB3, NKX2-1, TERT, ACVRL1, EZH2, DNMT3A, NOTCH1, MTOR, CTNNB1, MED12, GATA3, FGFR1, NF1, NTRK1, BTK, MPL, PAX5, GATA2, SMAD4, MAX, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, NF2, PTCH1, ATM, ALK, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, PNP, STAT3, SOX2, IDH2, RAF1, RET, RB1, WT1, PPARG, HNF1A, FOXL2, TP53, PTEN, MLH1, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 7 % Genes 45 %
Neurofibromatosis Type 1 , Sequencing NF1 Gene. By Reference Laboratory Genetics in Spain. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Type 1 , Deletions-Duplications (MLPA) NF1 Gene. By Reference Laboratory Genetics in Spain. NF1 Specificity 100 % Genes 5 %
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics in Spain. NF1, RAD51D, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 5 % Genes 5 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 5 %
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes. By Reference Laboratory Genetics in Spain. DICER1, WRN, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHB, FH, SDHC, SDHAF2, RB1, TP53, RECQL4, MLH1 , (...) View the complete list with 5 more genes Panel GTR000559848 complete gene list DICER1, WRN, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHB, FH, SDHC, SDHAF2, RB1, TP53, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 4 % Genes 5 %
Neurofibromatosis, type 1. By Labor Dr. Wisplinghoff in Germany. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis-Noonan syndrome. By Labor Dr. Wisplinghoff in Germany. NF1 Specificity 100 % Genes 5 %
Neurofibrometatosis type 1: NF1 gene sequencing for known mutation. By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India. NF1 Specificity 100 % Genes 5 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 49 more genes Panel GTR000558339 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 9 % Genes 30 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 67 more genes Panel GTR000558341 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 7 % Genes 30 %
Phosphorus Leukemia including Fanconi Anemia Genes Panel. By Phosphorus Diagnostics LLC in United States. ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, TERT, TERC, DKC1, FANCB, NF1, RAD51C, CEBPA, GATA2, BRIP1 , (...) View the complete list with 15 more genes Panel GTR000558449 complete gene list ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, TERT, TERC, DKC1, FANCB, NF1, RAD51C, CEBPA, GATA2, BRIP1, PALB2, NBN, ATM, TINF2, HRAS, BLM, FANCC, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2 Specificity 9 % Genes 15 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, MYBPC3 , (...) View the complete list with 25 more genes Panel GTR000558275 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, NF1, CAV3, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, RAF1, GAA, AGL, TTR Specificity 14 % Genes 30 %
152 Integrated Advantage NGS Solid Tumor Panel. By Integrated Molecular Diagnostics Pathology, Inc. in United States. AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1 , (...) View the complete list with 132 more genes Panel GTR000556804 complete gene list AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1, PBRM1, DAXX, CYP2C8, EPHA3, CDK8, CCND3, CDKN1A, GSK3B, GSTP1, CYP2B6, RRM1, ESR1, FGFR4, ROS1, RPTOR, NFE2L2, KEAP1, CCNE1, PARP1, ERBB4, AXL, MYC, SMO, ERCC1, ERBB2, DDR2, MDM2, IGF1R, BCL2, CCND1, XPC, DHFR, SLCO1B1, TNFAIP3, KDR, FLT1, RAD51, XPA, ERCC5, PDGFRB, SRC, MAP3K1, PRKCD, NOTCH2, PIK3R1, AKT1, AKT3, PIK3R2, GNA11, FBXW7, IDH1, MYD88, PDGFRA, TET2, JAK2, EGFR, TPMT, FLT3, GNAQ, AKT2, CSF1R, MYCN, PIK3CA, CDKN1B, CYP2D6, FANCD2, CYP2C19, FANCA, SPARC, GNAS, JAK3, KIT, EP300, FLT4, ERBB3, MITF, EZH2, TGFBR2, NOTCH1, ATR, ABCB1, MTOR, GATA1, CTNNB1, MED12, ERCC2, HGF, ATRX, FGFR1, NF1, NTRK1, DPYD, UGT1A1, RAD51C, RAD50, SMAD4, CHEK2, MET, CDKN2A, CDK4, STK11, MRE11, ATM, ALK, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, FANCC, AR, FGFR3, STAT3, TYMP, IDH2, RAF1, RET, RB1, TP53, PTEN, MLH1, APC, VHL, MTHFR, BRCA2, BRCA1 Specificity 5 % Genes 35 %
Tempus xT assay. By Tempus Labs, Inc. in United States. HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...) View the complete list with 571 more genes Panel GTR000558436 complete gene list HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4, SMARCA1, SUZ12, NCOR2, RHOA, BCL2L1, H3F3A, BCL11B, HLA-A, ETV4, FOXO1, ETV1, BTG1, ACVR1B, ABCC3, PTPRD, QKI, RAD51B, PTPN13, RPS6KB1, SGK1, SCG5, RSF1, SLC47A2, STAT6, SYK, TCL1A, SPEN, SLIT2, SOCS1, STAT5A, SPOP, TANC1, STAT4, LRP1B, LEF1, BCL2L11, ARHGAP35, AURKB, LMO1, ARHGAP26, C11orf65, MDM4, MAP2K4, C3orf70, MCL1, BCLAF1, EMSY, BCL7A, MKI67, VSIR, CHEK1, NUDT15, NUP98, PAK1, DIS3, PCBP1, PDCD1, PBRM1, DAXX, PDCD1LG2, EPHB1, EBF1, DOT1L, ECT2L, ELF3, EPHA7, FGF6, ERRFI1, FBXO11, ETS2, FGF7, FGF1, ERG, FHIT, TENT5C, FDPS, FGF5, ETS1, FGF2, GEN1, FNTB, FRS2, FOXO3, FUBP1, CD274, NCOR1, CDK8, CCND3, CDKN1A, CD22, NQO1, MYB, CBR3, GPS2, GRM3, PTPN22, RAD54L, TCF7L2, RNF139, ZNF750, EPHB2, DIRC2, IRF1, IL6R, IFNAR2, IRF4, IRS2, GSTP1, FOXA1, PIK3CG, CRKL, PIK3CB, MAPK1, PAX7, TAP2, FCGR3A, EWSR1, AXIN1, CRLF2, TNF, BCL10, PRSS2, XRCC3, CYP3A5, RINT1, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, HLA-DRB1, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, MAP3K7, CIC, CHD4, AXL, CD70, MAD2L2, FAT1, RXRA, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, PTCH2, CEP57, CDKN2B, EPHA2, MLLT3, TCF3, RARA, ERCC1, CBFB, ERBB2, MSH3, PML, MAFB, EGF, PALLD, DDR2, MDM2, ETV5, MLH3, MALT1, ARID5B, CDK12, ZNF471, ZNF620, XRCC1, TIGIT, XPO1, ZNF217, TNFRSF17, TNFRSF14, TNFRSF9, TOP2A, UGT1A9, TMPRSS2, PRCC, PIK3C2B, PPP2R2A, PREX2, PPP1R15A, PIM1, PRDM1, PIAS4, HLA-DQB2, HLA-DQA2, HAS3, HLA-DOB, HLA-DMA, HLA-DMB, HDAC1, HLA-DOA, HLA-E, HLA-DPB1, HLA-DPA1, HIST1H1E, HAVCR2, HIST1H4E, HDAC2, HIF1A, HLA-DRA, HLA-F, HSPH1, AJUBA, IFIT2, IFNAR1, IDO1, JAK1, IFIT3, JUN, KLLN, IFIT1, KLHL6, IRF2, IKBKE, ING1, INPP4B, IL15, HSP90AA1, ITPKB, TBX3, IFNL3, HDAC4, BCL2, SLC26A3, CCND1, FGF9, UMPS, XPC, MIB1, KAT6A, DDX3X, NTHL1, HOXB13, TYMS, HLA-DQA1, KEL, HLA-B, HLA-DQB1, FCGR2A, CD79B, CD79A, B2M, PLCG2, LYN, TNFAIP3, KDR, FLT1, FLG, CYLD, NSD2, GALNT12, BUB1B, RAD51, XPA, ERCC5, KMT2B, PDGFRB, DICER1, PAX8, UBE2T, EGLN1, WRN, CTCF, CDK6, RUNX1T1, SRC, ASNS, MAP3K1, DYNC2H1, CCND2, IL2RA, NTRK2, CARD11, POT1, TMEM173, TRAF3, EPOR, NOTCH2, MS4A1, CD19, PIK3R1, IL10RA, CTLA4, RANBP2, CIITA, NFKBIA, PIK3CD, BCR, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, AXIN2, POLE, ABRAXAS1, IL7R, IFNGR2, IFNGR1, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, GNAQ, GATA6, AKT2, GREM1, POLD1, APOB, CSF1R, MYCN, PIK3CA, GATA4, RPS15, ERCC4, VEGFA, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, NOP10, NHP2, CTC1, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, H19, CTRC, PRSS1, SPINK1, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, ABL2, DDB2, DIS3L2, MTAP, POLH, KMT2A, SMARCE1, ARID2, ERCC6, ERBB3, TPM1, NKX2-1, TERT, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, MYH11, ACTA2, TGFBR2, SMAD3, NOTCH1, ATR, ABCB1, MTOR, SPRED1, SOX9, TAF1, RBM10, DKC1, FANCB, SEC23B, RASA1, RPL5, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, ERCC3, ERCC2, HGF, SETBP1, KDM5C, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, CASR, FGF8, FGFR1, NF1, NOTCH3, NTRK1, LMNA, DNM2, DPYD, BTK, MPL, UGT1A1, G6PD, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, CFTR, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, TMEM127, ZFHX3, SOX2, PRKN, BCOR, AMER1, TAP1, ATIC, TUSC3, SDHB, SOD2, IDH2, FH, RAF1, SDHC, KIF1B, CYP1B1, CASP8, MTRR, MC1R, RET, HNF1B, SDHAF2, RB1, WT1, RAD51D, HNF1A, FOXL2, ATP7B, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, MTHFR, BRCA2, BRCA1 Specificity 3 % Genes 75 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 85 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...) View the complete list with 123 more genes Panel GTR000560391 complete gene list RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC, ANTXR1, RHBDF2, KDR, CYLD, GALNT12, BUB1B, XPA, ERCC5, DICER1, WRN, CD96, RSPO1, ESCO2, KLHDC8B, AIP, LIG4, EXT1, EXT2, AKT1, AXIN2, POLE, PDGFRA, POLD1, PIK3CA, ERCC4, CDKN1B, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, GLMN, SMARCB1, SMARCA4, ERCC6, TERT, LYST, MITF, GLI3, TGFBR1, ANTXR2, ATR, DKC1, FANCB, ERCC3, ERCC2, CYP21A2, NF1, NTRK1, WAS, RTEL1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, TINF2, BLM, FANCC, SDHA, MEN1, TMEM127, RNASEL, NDUFA13, SDHB, FAH, FH, SDHC, KIF1B, MC1R, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, HFE, BRCA2, BRCA1 Specificity 3 % Genes 15 %
CEN4GEN Lung cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA , (...) View the complete list with 24 more genes Panel GTR000560395 complete gene list ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA, BAP1, KIT, SMARCA4, NOTCH1, KMT2D, FGFR1, NF1, PKHD1, SMAD4, MET, CDKN2A, STK11, ATM, ALK, FGFR2, KRAS, BRAF, SOX2, RET, RB1, TP53, PTEN, MLH1, APC Specificity 5 % Genes 10 %
Neurofibromatosis 1: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis 1: gene deletion/duplication. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Type 1 (NF1) Evaluation. By Athena Diagnostics Inc in United States. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Type 1 DNA Sequencing Test. By Athena Diagnostics Inc in United States. NF1 Specificity 100 % Genes 5 %
NGS RASopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, KAT6B, LZTR1, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 3 more genes Panel GTR000522606 complete gene list A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, KAT6B, LZTR1, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 27 % Genes 30 %
Neurofibromatosis-Noonan syndrome. By Center for Human Genetics, Inc in United States. NF1 Specificity 100 % Genes 5 %
VisaSeq Breast and GYN Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000556509 complete gene list ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, FANCC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 4 % Genes 5 %
VistaSeq Breast Cancer Panel. By Molecular Diagnostic Laboratory LabCorp in United States. ABRAXAS1, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1 Specificity 6 % Genes 5 %
Neurofibromatosis1. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. NF1 Specificity 100 % Genes 5 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel. By Genetic Services Laboratory University of Chicago in United States. CARD11, CTLA4, CD27, PIK3CD, ITK, STXBP2, CASP10, FASLG, FAS, TNFRSF13B, IKZF1, SH2D1A, DOCK8, MAGT1, NF1, WAS, PRF1, NBN, ATM, BLM , (...) View the complete list with 3 more genes Panel GTR000520393 complete gene list CARD11, CTLA4, CD27, PIK3CD, ITK, STXBP2, CASP10, FASLG, FAS, TNFRSF13B, IKZF1, SH2D1A, DOCK8, MAGT1, NF1, WAS, PRF1, NBN, ATM, BLM, ADA, BRCA2, BRCA1 Specificity 5 % Genes 5 %
Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel. By Genetic Services Laboratory University of Chicago in United States. NF1, CHEK2, ATM, CBL, PTPN11, BLM, TP53, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1 Specificity 24 % Genes 15 %
Hereditary Leukemia and Breast Cancer Panel. By Genetic Services Laboratory University of Chicago in United States. DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, CHEK2, CDH1, PALB2, NBN, ATM, CBL, PTPN11 , (...) View the complete list with 11 more genes Panel GTR000551353 complete gene list DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, CHEK2, CDH1, PALB2, NBN, ATM, CBL, PTPN11, BLM, ANKRD26, TP53, RUNX1, PTEN, MLH1, MSH6, PMS2, MSH2, BRCA2, BRCA1 Specificity 17 % Genes 25 %
Hereditary Pheochromocytoma and Paraganglioma Panel. By Genetic Services Laboratory University of Chicago in United States. EGLN1, EPAS1, NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 8 % Genes 5 %
Noonan Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 42 % Genes 25 %
NF1. By Institute for Human Genetics University Clinic Freiburg in Germany. NF1 Specificity 100 % Genes 5 %
Expanded RASopathy Panel (14 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. SPRED1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 36 % Genes 25 %
NEUROFIBROMATOSIS, TYPE I; NF1. By Human Genetics Ruhr University in Germany. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Type 1 (NF1) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. NF1 Specificity 100 % Genes 5 %
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel. By GeneDx in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 9 % Genes 5 %
BreastNext. By Ambry Genetics in United States. NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, CHEK2, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1 Specificity 6 % Genes 5 %
CancerNext-Expanded. By Ambry Genetics in United States. HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1 , (...) View the complete list with 44 more genes Panel GTR000560508 complete gene list HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL, BRCA2, BRCA1 Specificity 2 % Genes 5 %
PGLNext. By Ambry Genetics in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 9 % Genes 5 %
NF1. Complete sequencing of the mRNA. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NF1 Specificity 100 % Genes 5 %
NF1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NF1 Specificity 100 % Genes 5 %
NF1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NF1 Specificity 100 % Genes 5 %
CHOP Comprehensive Hereditary Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2 , (...) View the complete list with 86 more genes Panel GTR000530264 complete gene list DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2, AXIN2, POLE, ETV6, IKZF1, PDGFRA, EGFR, POLD1, ERCC4, CDKN1B, BAP1, FANCG, FANCA, KIT, PRSS1, SH2D1A, SMARCB1, SMARCA4, SMARCE1, DOCK8, DKC1, ERCC3, ERCC2, NF1, MPL, SERPINA1, RAD51D, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, CDH1, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, CBL, RMRP, PTPN11, HRAS, GJB2, BLM, GBA, FANCC, SDHA, MEN1, HAX1, SDHB, FAH, FH, SDHC, SLC25A13, RET, SDHAF2, RB1, ABCB11, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, HFE, BRCA2, BRCA1 Specificity 5 % Genes 25 %
Neurofibromatosis 1. By CGC Genetics in Portugal. NF1 Specificity 100 % Genes 5 %
OncoRisk (NGS panel for 48 genes). By CGC Genetics in Portugal. EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4 , (...) View the complete list with 28 more genes Panel GTR000525282 complete gene list EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, PALB2, NF2, PHOX2B, NBN, ATM, NSD1, MEN1, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, EPCAM, APC, VHL, BRCA2, MSH2, BRCA1 Specificity 3 % Genes 5 %
OncoRisk Plus (NGS panel for 89 genes). By CGC Genetics in Portugal. CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...) View the complete list with 69 more genes Panel GTR000525735 complete gene list CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 20 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes). By CGC Genetics in Portugal. GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL Specificity 7 % Genes 5 %
Neurofibromatosis 1. By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Type 1 (NF1) Next Generation Sequencing and Deletion/Duplication Analysis. By Medical Genomics Laboratory Department of Genetics UAB in United States. NF1 Specificity 100 % Genes 5 %
Peripheral Nerve Sheath Tumor NGS panel. By Medical Genomics Laboratory Department of Genetics UAB in United States. SMARCB1, LZTR1, NF1, NF2, PTPN11, KRAS Specificity 50 % Genes 15 %
Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53 , (...) View the complete list with 11 more genes Panel GTR000509692 complete gene list POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 5 %
Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MAP3K8, SPRY1, A2ML1, RRAS, RASA2, KAT6B, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF , (...) View the complete list with 1 more genes Panel GTR000507720 complete gene list MAP3K8, SPRY1, A2ML1, RRAS, RASA2, KAT6B, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 29 % Genes 30 %
Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RECQL, NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, BRCA2, BRCA1 Specificity 6 % Genes 5 %
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SPRED1, NF1 Specificity 50 % Genes 5 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 9 % Genes 5 %
Interstitial Lung Disease Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SLC34A2, ITGA3, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, PARN, TERT, TERC, DKC1, NF1, RTEL1, SLC7A7, FLCN, TSC1, TSC2, TINF2, CFTR , (...) View the complete list with 4 more genes Panel GTR000556382 complete gene list SLC34A2, ITGA3, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1, CSF2RB, PARN, TERT, TERC, DKC1, NF1, RTEL1, SLC7A7, FLCN, TSC1, TSC2, TINF2, CFTR, STAT3, HPS4, HPS1, SMPD1 Specificity 5 % Genes 5 %
Hereditary Ovarian Cancer Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2 , (...) View the complete list with 5 more genes Panel GTR000558049 complete gene list DICER1, SMARCA4, NF1, RAD51D, BARD1, RAD51C, CHEK2, STK11, CDH1, PALB2, NBN, MRE11, ATM, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRIP1, RAD50, BRCA1 Specificity 4 % Genes 5 %
Noonan spectrum disorder Comprehensive panel. By Connective Tissue Gene Tests in United States. PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...) View the complete list with 5 more genes Panel GTR000559192 complete gene list PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 24 % Genes 30 %
Noonan spectrum disorder Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS , (...) View the complete list with 5 more genes Panel GTR000559193 complete gene list PPP1CB, A2ML1, RRAS, RASA2, NSUN2, CABIN1, SPRED1, LZTR1, ACTG1, ACTB, NF1, NF2, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 24 % Genes 30 %
Neurofibromatosis and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. SPRED1, NF1, NF2, MLH1, MSH6, MSH2 Specificity 17 % Genes 5 %
Neurofibromatosis type I Deletion / Duplication test. By Connective Tissue Gene Tests in United States. NF1 Specificity 100 % Genes 5 %
Hypertrophic cardiomyopathy - different panels. By Institute of Human Genetics Cologne University in Germany. AGPAT2, MYL3, MYL2, CSRP3, TNNT2, TPM1, PLN, PRKAG2, TNNI3, ACTC1, LAMP2, LZTR1, ACTA1, MYBPC3, FHL1, BSCL2, MYH7, DES, TTN, NF1 , (...) View the complete list with 45 more genes Panel GTR000558414 complete gene list AGPAT2, MYL3, MYL2, CSRP3, TNNT2, TPM1, PLN, PRKAG2, TNNI3, ACTC1, LAMP2, LZTR1, ACTA1, MYBPC3, FHL1, BSCL2, MYH7, DES, TTN, NF1, MAP2K2, RIT1, SOS2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, PHKA1, PDHA1, COQ2, GFM1, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, DLD, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, A2ML1, RRAS, RASA2, ACAD9, AARS2, TTR Specificity 8 % Genes 25 %
Custom solid tumor gene sequencing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ , (...) View the complete list with 25 more genes Panel GTR000560775 complete gene list RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ, PIK3CA, BAP1, KIT, ERBB3, MTOR, CTNNB1, ERCC2, HGF, GRIN2A, NF1, MET, CDKN2A, CDK4, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1, RET, TYRP1, FOXL2, TP53, PTEN, APC Specificity 7 % Genes 15 %
Hereditary Cancer Syndromes - panels. By MGZ Medical Genetics Center in Germany. RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...) View the complete list with 80 more genes Panel GTR000552439 complete gene list RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1, POLD1, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, PMS1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, HRAS, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 20 %
RASopathies. By MGZ Medical Genetics Center in Germany. RRAS, RASA2, SPRED1, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 40 % Genes 30 %
Pheochromozytoma-Paraganglioma syndrome. By MGZ Medical Genetics Center in Germany. NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 5 %
Solid Tumor Panel. By Centogene AG - the Rare Disease Company in Germany. KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA , (...) View the complete list with 42 more genes Panel GTR000527971 complete gene list KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA, GNAS, JAK3, ASXL1, KIT, ARID1A, SMARCB1, SMARCA4, KMT2A, KDM6A, NOTCH1, MTOR, CTNNB1, KMT2D, FGFR1, NF1, SMAD4, MET, CDKN2A, CDK4, STK11, CDH1, PTCH1, ATM, ALK, TSC1, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RET, RB1, TP53, PTEN, MLH1, APC, VHL Specificity 10 % Genes 30 %
Neurofibromatosis type I. By Centogene AG - the Rare Disease Company in Germany. NF1 Specificity 100 % Genes 5 %
Disorders associated with malignancy Panel. By CeGaT GmbH in Germany. DDB2, POLH, XPC, RHBDF2, GTF2H5, CYLD, XPA, ERCC5, PDGFRB, FERMT1, ERCC8, AKT1, AXIN2, PIK3CA, ERCC4, NOP10, NHP2, WRAP53, CTC1, ERCC6 , (...) View the complete list with 25 more genes Panel GTR000522365 complete gene list DDB2, POLH, XPC, RHBDF2, GTF2H5, CYLD, XPA, ERCC5, PDGFRB, FERMT1, ERCC8, AKT1, AXIN2, PIK3CA, ERCC4, NOP10, NHP2, WRAP53, CTC1, ERCC6, TERT, TERC, DKC1, ERCC3, ERCC2, NF1, RTEL1, PRKAR1A, FLCN, SDHD, STK11, NF2, PTCH1, ATM, TSC1, TSC2, TINF2, BLM, SDHB, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2 Specificity 3 % Genes 5 %
Familial Tumor Syndromes Panel. By CeGaT GmbH in Germany. RASAL1, CYLD, DICER1, WRN, AKT1, PIK3CA, BAP1, SMARCB1, SMARCA4, SMARCE1, ATR, SPRED1, LZTR1, NF1, CDC73, MET, SDHD, CDKN2A, NF2, NBN , (...) View the complete list with 12 more genes Panel GTR000522366 complete gene list RASAL1, CYLD, DICER1, WRN, AKT1, PIK3CA, BAP1, SMARCB1, SMARCA4, SMARCE1, ATR, SPRED1, LZTR1, NF1, CDC73, MET, SDHD, CDKN2A, NF2, NBN, TSC1, TSC2, BLM, SDHB, FH, SDHC, RET, RB1, LIG4, TP53, RECQL4, PTEN Specificity 4 % Genes 5 %
Breast and Ovarian Cancer - extended Diagnostic Panel. By CeGaT GmbH in Germany. UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD , (...) View the complete list with 21 more genes Panel GTR000522395 complete gene list UIMC1, RINT1, MSH3, ABRAXAS1, XRCC2, FANCD2, SLX4, FANCE, FANCF, FANCG, FANCA, NF1, RAD51D, PMS1, BARD1, RAD51C, BRIP1, RAD50, CHEK2, SDHD, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, FANCC, MEN1, SDHB, SDHC, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 3 % Genes 5 %
RASopathies Panel. By CeGaT GmbH in Germany. CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 3 more genes Panel GTR000522479 complete gene list CCND2, AKT3, PIK3R2, PIK3CA, STAMBP, A2ML1, RRAS, RASA2, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 27 % Genes 30 %
Single gene testing NF1. By CeGaT GmbH in Germany. NF1 Specificity 100 % Genes 5 %
Test for Neurofibromatosis 1. By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom. NF1 Specificity 100 % Genes 5 %
Cancer Predisposition. By Asper Biogene Asper Biogene LLC in Estonia. DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...) View the complete list with 69 more genes Panel GTR000520069 complete gene list DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, HRAS, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 15 %
Neurofibromatosis 1, NF1 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. NF1 Specificity 100 % Genes 5 %
Hypertrophic cardiomyopathy extended panel. By Health in Code in Spain. MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2 , (...) View the complete list with 84 more genes Panel GTR000530670 complete gene list MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, PDLIM3, CASQ2, RYR2, ANK2, KCNJ8, LAMP2, LZTR1, TCAP, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR Specificity 4 % Genes 20 %
Cardiomyopathies General Panel. By Health in Code in Spain. NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...) View the complete list with 153 more genes Panel GTR000530674 complete gene list NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5, OBSL1, AGPAT2, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, KCNQ1, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 25 %
Neurocutaneous Panel. By Molecular Vision Laboratory in United States. KIT, SPRED1, NF1, NF2, TSC1, TSC2, VHL Specificity 15 % Genes 5 %
Neurofibromatosis panel. By Molecular Vision Laboratory in United States. KIT, SPRED1, NF1 Specificity 34 % Genes 5 %
RASOPATHY-RELATED SYNDROME. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. A2ML1, RRAS, RASA2, SPRED1, LZTR1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 32 % Genes 30 %
NOONAN SYNDROME. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. A2ML1, RRAS, RASA2, LZTR1, NF1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1 Specificity 38 % Genes 30 %
Neurofibromatosis I. By MedGene in Slovakia. NF1 Specificity 100 % Genes 5 %
Invitae Sarcoma Panel. By Invitae in United States. DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4 , (...) View the complete list with 6 more genes Panel GTR000529017 complete gene list DICER1, WRN, PDGFRA, KIT, NF1, PRKAR1A, SDHD, CDKN1C, SUFU, PTCH1, NBN, HRAS, BLM, SDHA, SDHB, FH, SDHC, RB1, TP53, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 4 % Genes 5 %
Invitae Nervous System/Brain Cancer Panel. By Invitae in United States. DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6 , (...) View the complete list with 5 more genes Panel GTR000528930 complete gene list DICER1, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, MEN1, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 4 % Genes 5 %
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel. By Invitae in United States. NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 5 %
Invitae Pediatric Solid Tumors Panel. By Invitae in United States. DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2 , (...) View the complete list with 28 more genes Panel GTR000551805 complete gene list DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 3 % Genes 5 %
Invitae Neurofibromatosis Type 1 Test. By Invitae in United States. NF1 Specificity 100 % Genes 5 %
Invitae RASopathies Comprehensive Panel. By Invitae in United States. A2ML1, RRAS, SPRED1, RASA1, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 34 % Genes 30 %
Neurofibromatosis type I: NF1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NF1 Specificity 100 % Genes 5 %
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRKCB, PIK3CG, LRP1, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, IL2, PRKCH, RAC1, ERBB2, SRC, IL2RA, SRCAP, PIK3R1, PIK3CD, AKT1, PIK3R2 , (...) View the complete list with 24 more genes Panel GTR000531440 complete gene list PRKCB, PIK3CG, LRP1, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, IL2, PRKCH, RAC1, ERBB2, SRC, IL2RA, SRCAP, PIK3R1, PIK3CD, AKT1, PIK3R2, EGFR, PIK3CA, CD2AP, JAK3, SPRED1, ANKRD11, SHOX, NF1, MET, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, FGFR3, IL2RG, RAF1, PRKCG Specificity 14 % Genes 30 %
PARAGANGLIOMA-PHEOCHROMOCYTOMA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 5 %
Hereditary Cancer NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...) View the complete list with 92 more genes Panel GTR000509427 complete gene list RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP, EXT2, AXIN2, PDGFRA, EGFR, POLD1, RBBP8, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, PRSS1, SMARCB1, TERT, MITF, ATR, FANCB, CTNNB1, ERCC3, ERCC2, NF1, MPL, RAD51D, PMS1, BARD1, RAD51C, PRKAR1A, SBDS, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, NBN, MRE11, ATM, TSC1, TSC2, PTPN11, HRAS, BLM, FANCC, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, TYR, MC1R, RET, SDHAF2, RB1, WT1, EXT1, TP53, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 10 %
Hematologic Malignancy Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. TERT, TERC, NF1, CEBPA, GATA2, NBN, ATM, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM Specificity 19 % Genes 15 %
Comprehensive Cancer Panel. By Fulgent Genetics Fulgent Genetics in United States. RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...) View the complete list with 104 more genes Panel GTR000531711 complete gene list RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP, EXT1, EXT2, AXIN2, POLE, PDGFRA, GREM1, POLD1, RBBP8, ERCC4, CDKN1B, BAP1, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, PRSS1, SMARCB1, SMARCA4, SMARCE1, TERT, MITF, EZH2, ATR, FANCB, ERCC3, ERCC2, CASR, NF1, MPL, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, SBDS, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, TSC1, TSC2, PTPN11, HRAS, BLM, FANCC, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, TYR, MC1R, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 25 %
Gastric Cancer Comprehensive Panel. By Fulgent Genetics Fulgent Genetics in United States. PDGFRA, KIT, NF1, SMAD4, BMPR1A, STK11, CDH1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 8 % Genes 5 %
Onco microarray for MDS/AML. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. SET, ELL, GAS6, AFF1, ACSL6, ARHGAP26, AFDN, MLLT10, MRTFA, NUP98, ELF4, ERG, FOXO4, MYB, RBM15, EGR1, MECOM, RPN1, MLLT1, MLLT3 , (...) View the complete list with 40 more genes Panel GTR000527619 complete gene list SET, ELL, GAS6, AFF1, ACSL6, ARHGAP26, AFDN, MLLT10, MRTFA, NUP98, ELF4, ERG, FOXO4, MYB, RBM15, EGR1, MECOM, RPN1, MLLT1, MLLT3, NUP214, FIP1L1, PBX1, TCF3, RARA, CBFB, PICALM, DEK, PML, TRPS1, PDGFRB, RUNX1T1, BCR, ETV6, IDH1, TET2, ABL1, JAK2, NPM1, FLT3, ASXL1, KIT, KMT2A, TERT, TFG, EZH2, DNMT3A, GATA1, FUS, NF1, GATA2, ALK, CBL, PTPN11, NRAS, KRAS, IDH2, WT1, TP53, RUNX1 Specificity 19 % Genes 56 %
Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication. By Institut fuer Laboratoriumsmedizin Berlin Institut für Laboratoriumsmedizin Berlin (IFLb) in Germany. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Panel. By Blueprint Genetics in Finland. KITLG, KIT, SMARCB1, SPRED1, NF1, NF2, PTPN11, RAF1 Specificity 25 % Genes 10 %
Cardiomyopathy Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...) View the complete list with 135 more genes Panel GTR000552712 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, TGFB3, ACTC1, CASQ2, RYR2, PKP2, ABCC9, ABCC6, RRAS, RASA2, SPRED1, LAMP2, LZTR1, VPS13A, EEF1A2, SCN5A, HCN4, LARGE1, LAMA2, SMCHD1, ISPD, SGCD, TCAP, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 4 % Genes 30 %
Hereditary Pediatric Cancer Panel. By Blueprint Genetics in Finland. REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5 , (...) View the complete list with 51 more genes Panel GTR000552804 complete gene list REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, SDHA, MEN1, TMEM127, SDHB, FH, RAF1, SDHC, RET, SDHAF2, WT1, TP53, RUNX1, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 13 % Genes 45 %
Hereditary Paraganglioma-Pheochromocytoma Panel. By Blueprint Genetics in Finland. NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL Specificity 10 % Genes 5 %
Congenital Structural Heart Disease Panel. By Blueprint Genetics in Finland. CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5 , (...) View the complete list with 42 more genes Panel GTR000552653 complete gene list CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5, ABL1, GATA6, ACVR2B, CRELD1, LEFTY2, MYCN, GATA4, GDF1, ZIC3, B3GAT3, GJA1, CTC1, PPP1CB, EFTUD2, TBX5, SALL4, NKX2-5, ACTC1, BMPR2, ACVR1, ACTA2, NOTCH1, NODAL, RBM10, HOXA1, ACTG1, ACTB, TBX1, FLNA, NF1, ENG, GPC3, NSD1, CBL, SOS2, HRAS, DHCR7, CHD7, BCOR, JAG1, PITX2, ELN Specificity 4 % Genes 10 %
Comprehensive Pulmonology Panel. By Blueprint Genetics in Finland. SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...) View the complete list with 46 more genes Panel GTR000552734 complete gene list SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, CCDC40, DNAL1, CSF2RB, EFEMP2, CSF2RA, PARN, RSPH3, GAS8, TERT, DNAH1, ELMOD2, TERC, DKC1, EDN3, ZEB2, CHRNB1, CHRND, CHRNA1, COLQ, SCNN1B, SCNN1A, NF1, SCN4A, RAPSN, RTEL1, SLC7A7, SERPINA1, CHRNE, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, CHAT, CCDC39, HPS4, HPS1, MECP2, SMPD1, ELN, RET, FBLN5 Specificity 2 % Genes 5 %
Noonan Syndrome Panel. By Blueprint Genetics in Finland. PPP1CB, RRAS, RASA2, NSUN2, SPRED1, LZTR1, ACTG1, ACTB, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS , (...) View the complete list with 2 more genes Panel GTR000552619 complete gene list PPP1CB, RRAS, RASA2, NSUN2, SPRED1, LZTR1, ACTG1, ACTB, NF1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 28 % Genes 30 %
Neurofibromatosis type I. By Bioarray in Spain. NF1 Specificity 100 % Genes 5 %
Hematopoietic Disorders Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TSLP, FGFR4, TET1, BIRC3, PDGFRB, NOTCH2, IL7R, CSF3R, ETV6, FBXW7, IDH1, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2 , (...) View the complete list with 34 more genes Panel GTR000522546 complete gene list TSLP, FGFR4, TET1, BIRC3, PDGFRB, NOTCH2, IL7R, CSF3R, ETV6, FBXW7, IDH1, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, CSF1R, CALR, JAK3, ASXL1, KIT, EP300, KMT2A, TERT, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, GATA3, SETBP1, NF1, MPL, CEBPA, PAX5, GATA2, ATM, NSD1, CBL, PTPN11, NRAS, KRAS, CREBBP, BRAF, BCOR, IDH2, TP53, RUNX1 Specificity 25 % Genes 65 %
CNS Tumor Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...) View the complete list with 28 more genes Panel GTR000522547 complete gene list H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, WNT1, SMARCB1, SMARCA4, TERT, DNMT3A, NOTCH1, MTOR, CTNNB1, MED12, ATRX, SETD2, FGFR1, NF1, NTRK1, MET, CDKN2A, SUFU, NF2, PTCH1, FGFR2, KRAS, BRAF, IDH2, SHH, RB1, WT1, TP53, PTEN Specificity 7 % Genes 15 %
Melanoma Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. KMT2C, ROS1, RAC1, ERBB4, ERBB2, CCND1, PDGFRB, AKT1, GNA11, PDGFRA, EGFR, GNAQ, PIK3CA, BAP1, KIT, TERT, MTOR, CTNNB1, MED12, KMT2D , (...) View the complete list with 18 more genes Panel GTR000522548 complete gene list KMT2C, ROS1, RAC1, ERBB4, ERBB2, CCND1, PDGFRB, AKT1, GNA11, PDGFRA, EGFR, GNAQ, PIK3CA, BAP1, KIT, TERT, MTOR, CTNNB1, MED12, KMT2D, FGFR1, NF1, MET, CDKN2A, CDK4, ALK, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, FGFR3, RET, RB1, TP53, PTEN Specificity 8 % Genes 15 %
Genitourinary Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2 , (...) View the complete list with 24 more genes Panel GTR000553950 complete gene list PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2, KDM5C, SETD2, KMT2D, NF1, MET, CDKN2A, PTCH1, ATM, TSC1, TSC2, FGFR2, NRAS, HRAS, CREBBP, BRAF, AR, FGFR3, PPARG, TP53, PTEN, MLH1, VHL, BRCA2, BRCA1 Specificity 5 % Genes 10 %
Gynecologic Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3 , (...) View the complete list with 30 more genes Panel GTR000553951 complete gene list ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3, KIT, EP300, MTOR, CTNNB1, MED12, FGFR1, NF1, SMAD4, MET, CDKN2A, STK11, ATM, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, FGFR3, BCOR, RB1, FOXL2, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 8 % Genes 20 %
Neurofibromatosis NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SPRED1, NF1, NF2 Specificity 34 % Genes 5 %
Guardant360. By Guardant Health in United States. MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...) View the complete list with 53 more genes Panel GTR000527948 complete gene list MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7, IDH1, PDGFRA, JAK2, EGFR, NPM1, GNAQ, PIK3CA, GNAS, JAK3, KIT, ARID1A, TERT, EZH2, NOTCH1, MTOR, CTNNB1, GATA3, FGFR1, NF1, NTRK1, MPL, SMAD4, MET, CDKN2A, CDK4, STK11, CDH1, ATM, ALK, TSC1, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RAF1, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL, BRCA2, BRCA1 Specificity 9 % Genes 30 %
Otogenetics Hereditary Cancers. By Otogenetics in United States. PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN , (...) View the complete list with 19 more genes Panel GTR000552245 complete gene list PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, MRE11, ATM, HRAS, FANCC, MEN1, RET, ELAC2, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 5 %
NEUROFIBROMATOSIS TYPE 1. By Laboratorio de Genetica Clinica SL in Spain. NF1 Specificity 100 % Genes 5 %
Neurofibromatosis Type 1 , Sequencing RNAm NF1 Gene. By Reference Laboratory Genetics in Spain. NF1 Specificity 100 % Genes 5 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes. By Reference Laboratory Genetics in Spain. CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...) View the complete list with 70 more genes Panel GTR000559668 complete gene list CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, KIT, SMARCB1, EZH2, FANCB, ERCC3, ERCC2, NF1, RAD51D, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, GATA2, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, NSD1, TSC1, TSC2, BLM, FANCC, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, HNF1A, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 20 %
Juvenile Myelomonocytic Leukemia , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. NF1, CBL, PTPN11, NRAS, KRAS Specificity 100 % Genes 25 %
Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1,NF2,SPRED1 Genes. By Reference Laboratory Genetics in Spain. SPRED1, NF1, NF2 Specificity 34 % Genes 5 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 75 more genes Panel GTR000558342 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 7 % Genes 30 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 57 more genes Panel GTR000558343 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 8 % Genes 30 %
Phosphorus Breast Cancer Panel. By Phosphorus Diagnostics LLC in United States. NF1, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, CDH1, PALB2, NBN, ATM, TP53, PTEN, BRCA2, BRCA1 Specificity 7 % Genes 5 %
Phosphorus Leukemia Panel. By Phosphorus Diagnostics LLC in United States. TERT, TERC, DKC1, NF1, CEBPA, GATA2, NBN, ATM, TINF2, HRAS, BLM, TP53, RUNX1, MLH1, MSH6, PMS2, MSH2, EPCAM Specificity 17 % Genes 15 %
Phosphorus Brain and Nervous System Cancer Panel. By Phosphorus Diagnostics LLC in United States. DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1 , (...) View the complete list with 15 more genes Panel GTR000558452 complete gene list DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, RB1, TP53, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 3 % Genes 5 %
Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel. By Phosphorus Diagnostics LLC in United States. CTRC, PRSS1, SPINK1, CASR, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, CFTR, MEN1, TP53, MLH1, MSH6, PMS2, MSH2 , (...) View the complete list with 5 more genes Panel GTR000558454 complete gene list CTRC, PRSS1, SPINK1, CASR, NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, CFTR, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 5 %
Phosphorus Pancreatic Cancer Panel. By Phosphorus Diagnostics LLC in United States. NF1, SMAD4, BMPR1A, CDKN2A, STK11, PALB2, ATM, TSC1, TSC2, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 5 % Genes 5 %
Phosphorus Pan-Cancer Panel. By Phosphorus Diagnostics LLC in United States. DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...) View the complete list with 63 more genes Panel GTR000558459 complete gene list DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF, CASR, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 4 % Genes 15 %
Phosphorus Pediatric Cancers Panel. By Phosphorus Diagnostics LLC in United States. DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...) View the complete list with 33 more genes Panel GTR000558461 complete gene list DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2, PHOX2B, PTCH1, NBN, ATM, ALK, TSC1, TSC2, HRAS, BLM, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, RB1, WT1, TP53, RUNX1, RECQL4, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL Specificity 8 % Genes 20 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, FHL1, BAG3, LDB3, FLNC , (...) View the complete list with 29 more genes Panel GTR000556375 complete gene list VCL, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, FHL1, BAG3, LDB3, FLNC, MYH7, DES, NF1, CAV3, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, MTO1, RAF1, CPT2, ELAC2, GAA, ACADVL, AGL, MYL3, MYL2, CSRP3, MYBPC3, TTR Specificity 13 % Genes 30 %
CEN4GEN Ovarian cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. KREMEN1, USP16, MAS1L, CSMD3, FAT3, GABRA6, CCNE1, PPP2R1A, ERBB2, CDK12, PIK3R1, AKT1, CBLC, PDGFRA, EGFR, PIK3CA, KIT, ARID1A, CTNNB1, NF1 , (...) View the complete list with 12 more genes Panel GTR000560396 complete gene list KREMEN1, USP16, MAS1L, CSMD3, FAT3, GABRA6, CCNE1, PPP2R1A, ERBB2, CDK12, PIK3R1, AKT1, CBLC, PDGFRA, EGFR, PIK3CA, KIT, ARID1A, CTNNB1, NF1, CDKN2A, NRAS, KRAS, BRAF, CUBN, RB1, TP53, PTEN, MLH1, MSH2, BRCA2, BRCA1 Specificity 10 % Genes 15 %
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MYC, IDH1, MYD88, PDGFRA, TET2, ABL1, JAK2, NPM1, FLT3, ASXL1, KIT, KMT2A, DNMT3A, NOTCH1, NF1, MPL, CEBPA, ALK, PTPN11, BRAF , (...) View the complete list with 3 more genes Panel GTR000560472 complete gene list MYC, IDH1, MYD88, PDGFRA, TET2, ABL1, JAK2, NPM1, FLT3, ASXL1, KIT, KMT2A, DNMT3A, NOTCH1, NF1, MPL, CEBPA, ALK, PTPN11, BRAF, IDH2, TP53, RUNX1 Specificity 22 % Genes 25 %
Syndromic Hirschsprung Disease: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1 , (...) View the complete list with 8 more genes Panel GTR000560245 complete gene list GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, TRIM32, TTC8, CEP290, MKKS, ARL6 Specificity 4 % Genes 5 %
Neurofibromatosis I. By Genomic Laboratory Semmelweis University in Hungary. NF1 Specificity 100 % Genes 5 %
NRAS Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. NRAS Specificity 100 % Genes 5 %
NRAS Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. NRAS Specificity 100 % Genes 5 %
NRAS Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. NRAS Specificity 100 % Genes 5 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen. By Baylor Miraca Genetics Laboratories in United States. NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...) View the complete list with 10 more genes Panel GTR000552480 complete gene list NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CHD7, CDKL5, BRAF, FGFR3, MECP2, RAF1, JAG1, COL1A2, COL1A1 Specificity 14 % Genes 20 %
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...) View the complete list with 67 more genes Panel GTR000522580 complete gene list PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26, KLF1, GATA1, WDR35, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIF23, FAT4, KIAA0586, LZTR1, PIEZO1, FOXC2, MID1, PEX6, LBR, PIGA, KMT2D, ASAH1, CHRND, CHRNA1, CLCNKB, SUMF1, SLC17A5, PEX1, G6PD, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, RPS19, PTPN11, NRAS, NPC1, MAP2K1, LIPA, KRAS, IDUA, HRAS, GLA, DHCR7, BRAF, GBA, FGFR3, PMM2, GBE1, GALNS, GUSB, CTSA, ALG1, ALG9, HADHB, RPL35A, SMPD1, RAF1, HADHA, GLB1, GNPTAB, COL2A1 Specificity 5 % Genes 20 %
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 87 more genes Panel GTR000556277 complete gene list DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, A2ML1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, TMEM70, MTO1, RAF1, CRYAB, DSP, GAA, ACADVL, AGL, TTR Specificity 4 % Genes 20 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 92 more genes Panel GTR000528536 complete gene list TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, SCN4B, AKAP9, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, FXN, CBS, SURF1, COX15, TAZ, SCO2, FBN1, RAF1, CRYAB, DSP, EYA4, COL3A1, GAA, TTR Specificity 4 % Genes 20 %
NRAS Mutation Analysis. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. NRAS Specificity 100 % Genes 5 %
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8 Specificity 23 % Genes 10 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8 Specificity 23 % Genes 10 %
NRAS Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. NRAS Specificity 100 % Genes 5 %
NRAS Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. NRAS Specificity 100 % Genes 5 %
Noonan Spectrum Disorders Panel, Sequencing, 15 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SPRED1, RAB40AL, KAT6B, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 27 % Genes 20 %
Noonan Spectrum Disorders Panel. By GeneDx in United States. CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 37 % Genes 20 %
Comprehensive Cardiomyopathy Panel. By GeneDx in United States. MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1 , (...) View the complete list with 56 more genes Panel GTR000520445 complete gene list MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, RYR2, PKP2, ABCC9, LAMP2, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, MT-ND6, MT-ND1, MT-TK, MT-TL1, LMNA, FKTN, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, TTR Specificity 4 % Genes 15 %
Lynch Syndrome Paired Testing. By Ambry Genetics in United States. NRAS, KRAS, BRAF, MLH1, MSH6, PMS2, MSH2, EPCAM Specificity 25 % Genes 10 %
Lymphedema NGS Multi-Gene Panel (36 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CDK19, ITGA9, PEPD, TUBGCP6, GJA1, FLT4, PTPN14, KIF11, VEGFC, ABCC9, NAGA, SPRED1, CCBE1, SOX18, FAT4, FOXC2, HGF, RELN, GATA2, MET , (...) View the complete list with 16 more genes Panel GTR000529113 complete gene list CDK19, ITGA9, PEPD, TUBGCP6, GJA1, FLT4, PTPN14, KIF11, VEGFC, ABCC9, NAGA, SPRED1, CCBE1, SOX18, FAT4, FOXC2, HGF, RELN, GATA2, MET, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, GJC2, BRAF, PMM2, MPI, ALG8, RAF1 Specificity 14 % Genes 25 %
PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, RAF1 Specificity 37 % Genes 20 %
Noonan Syndrome - NRAS Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. NRAS Specificity 100 % Genes 5 %
NRAS gene (sequence analysis). By CGC Genetics in Portugal. NRAS Specificity 100 % Genes 5 %
Non-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication. By Medical Genomics Laboratory Department of Genetics UAB in United States. RASA2, SPRED1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 27 % Genes 20 %
Comprehensive Cardiology Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...) View the complete list with 144 more genes Panel GTR000553680 complete gene list ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP, CRELD1, ZIC3, TMPO, ABCG8, ABCG5, FHL2, TBX5, SALL4, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, KCNA5, EFEMP2, LTBP2, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, SMAD3, NOTCH1, TGFB2, NODAL, LAMP2, CACNA1C, KCNQ1, KCNE1, MYO6, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, RYR1, SELENON, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, APOE, LMNA, HSPB8, SGCG, FKTN, PRKAR1A, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, ALMS1, CBS, COX15, TAZ, SCO2, DNAJC19, GCKR, FBN1, RAF1, HADHA, CRYAB, SLC25A4, DSP, JAG1, EYA4, ELN, COL3A1, GAA, TTR, HFE Specificity 3 % Genes 20 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL , (...) View the complete list with 20 more genes Panel GTR000552126 complete gene list GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LIPA, KRAS, IDUA, HRAS, DHCR7, BRAF, GBA, GALNS, GUSB, CTSA, RAF1, GLB1, GNPTAB Specificity 10 % Genes 20 %
Noonan syndrome core Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 29 % Genes 20 %
Noonan syndrome core Comprehensive panel. By Connective Tissue Gene Tests in United States. LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 29 % Genes 20 %
Noonan Syndrome. By MGZ Medical Genetics Center in Germany. RRAS, RASA2, CBL, SOS1, SHOC2, PTPN11, NRAS, KRAS, RAF1 Specificity 56 % Genes 25 %
Congenital heart defects panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. GJC1, TBX20, CFC1, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, MYH11, FOXH1, NODAL, MYBPC3, LDB3, MYH7 , (...) View the complete list with 14 more genes Panel GTR000509413 complete gene list GJC1, TBX20, CFC1, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, MYH11, FOXH1, NODAL, MYBPC3, LDB3, MYH7, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, TAZ, RAF1, JAG1, ELN Specificity 12 % Genes 20 %
ALPS/autoimmunity panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. ITCH, IL2RA, FADD, LRBA, CASP10, FASLG, FAS, FOXP3, NRAS, KRAS, AIRE, CASP8 Specificity 17 % Genes 10 %
Epidermal nevus, somatic. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
Noonan syndrome type 6. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
Colorectal cancer, somatic. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
Melanocytic nevus syndrome, congenital, somatic. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
Thyroid carcinoma, follicular, somatic. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 25 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 25 %
NRAS. By MVZ Dortmund Dr. Eberhard & Partner in Germany. NRAS Specificity 100 % Genes 5 %
Inherited Cardiovascular Diseases and Sudden Death Panel. By Health in Code in Spain. FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...) View the complete list with 193 more genes Panel GTR000521465 complete gene list FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, APOA5, APOB, PCSK9, CETP, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, PRKG1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, NOTCH3, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, ENG, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, COL5A1, ALMS1, PMM2, SLC22A5, COX6B1, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, FBN1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, COL3A1, COL1A2, COL1A1, GAA, ATPAF2, ACADVL, AGL, ACADM, ACAD9, AARS2, TTR, HFE Specificity 2 % Genes 20 %
Cardiomyopathies Panel. By Health in Code in Spain. FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...) View the complete list with 129 more genes Panel GTR000521478 complete gene list FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, SPRED1, LAMP2, KCNQ1, TBX1, FLNA, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 20 %
Hypertrophic Cardiomyopathy Extended Panel. By Health in Code in Spain. FHOD3, TRIM63, KLF10, CALR3, CAVIN4, OBSL1, AGPAT2, FHL2, CTF1, VCL, MYL3, MYL2, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN , (...) View the complete list with 70 more genes Panel GTR000521482 complete gene list FHOD3, TRIM63, KLF10, CALR3, CAVIN4, OBSL1, AGPAT2, FHL2, CTF1, VCL, MYL3, MYL2, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, PDLIM3, CASQ2, RYR2, ANK2, KCNJ8, LAMP2, TCAP, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, TSFM, MRPS22, CSRP3, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR Specificity 4 % Genes 15 %
NGS HemeOnc Panel. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. CSF3R, ETV6, IDH1, SF3B1, SRSF2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, SH2B3, ASXL1, KIT, EZH2, DNMT3A, SETBP1, PHF6, MPL, CEBPA , (...) View the complete list with 9 more genes Panel GTR000521824 complete gene list CSF3R, ETV6, IDH1, SF3B1, SRSF2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, SH2B3, ASXL1, KIT, EZH2, DNMT3A, SETBP1, PHF6, MPL, CEBPA, GATA2, CBL, PTPN11, NRAS, KRAS, IDH2, WT1, TP53, RUNX1 Specificity 38 % Genes 56 %
Invitae Congenital Heart Disease Panel. By Invitae in United States. HAND1, MEIS2, NKX2-6, NR2F2, MED13L, SMAD6, ZFPM2, GATA6, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, NOTCH1 , (...) View the complete list with 22 more genes Panel GTR000551740 complete gene list HAND1, MEIS2, NKX2-6, NR2F2, MED13L, SMAD6, ZFPM2, GATA6, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, NOTCH1, FOXH1, NODAL, TBX1, GPC3, NSD1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CHD7, BRAF, ALMS1, BCOR, RAF1, JAG1, ELN Specificity 10 % Genes 20 %
Invitae Noonan Syndrome Panel. By Invitae in United States. A2ML1, RRAS, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1 Specificity 36 % Genes 25 %
Noonan Syndrome and Related Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 34 % Genes 20 %
Melanoma: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. WRN, GNAQ, PIK3CA, BAP1, KIT, CDKN2A, CDK4, NRAS, MAP2K1, KRAS, BRAF, RB1, PTEN Specificity 16 % Genes 10 %
Cardiomyopathy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 45 more genes Panel GTR000558613 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, SLC22A5, TAZ, RAF1, CRYAB, DSP, GAA, TTR Specificity 5 % Genes 15 %
Comprehensive Cardiovascular: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 86 more genes Panel GTR000558799 complete gene list TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, NEBL, PDLIM3, BMPR2, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 3 % Genes 15 %
Noonan Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 37 % Genes 20 %
Thyroid Cancer NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SDHD, NRAS, KRAS, HRAS, BRAF, SDHB, RET, TP53, PTEN, MUTYH Specificity 20 % Genes 10 %
NRAS. By Fulgent Genetics Fulgent Genetics in United States. NRAS Specificity 100 % Genes 5 %
Primary Immunodeficiency Panel. By Blueprint Genetics in Finland. BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...) View the complete list with 255 more genes Panel GTR000552725 complete gene list BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8, CD247, CD8A, MTHFD1, STAT2, EXTL3, SMARCD2, WDR1, CD70, CORO1A, CD3G, TCF3, IL17RA, TRAF3IP2, MALT1, IL21R, IL21, NFKB1, COPA, CEBPE, COLEC11, TMC8, TMC6, CFP, PEPD, ITGB2, NCF1, CD79B, IGLL1, CD79A, BLNK, PLCG2, C1QB, RBCK1, C1QA, ACP5, C1QC, RNF31, IL10, DDX58, IL1RN, PSENEN, NCSTN, TNFAIP3, NLRP1, CARD14, IL36RN, SPINK5, SERPING1, TRNT1, RNF168, CLPB, USP18, RNU4ATAC, DNMT3B, IL2RA, SAMD9L, SAMD9, CARD11, TMEM173, NLRP12, UNC93B1, C2, DNAJC21, PGM3, PSTPIP1, PRKCD, ISG15, IL12B, ADA2, CFD, TYK2, PRKDC, IL10RB, ICOS, CD81, CR2, CD19, CARD9, ACD, PIK3R1, TTC7A, SMARCAL1, NLRC4, JAGN1, IL10RA, EPG5, CTLA4, NFKB2, TNFRSF1A, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, WIPF1, CD27, FADD, NFKBIA, LRBA, IRAK4, PIK3CD, LPIN2, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ITK, STXBP2, CASP10, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, CD3D, CD3E, IFNGR2, IFNGR1, CD40LG, CD40, AICDA, TNFRSF13B, CSF3R, IKZF1, MYD88, STIM1, RAB27A, MYO5A, FERMT3, SLC46A1, USB1, SRP72, MASP1, SLC29A3, DGKE, NOD2, C1S, NOP10, NHP2, WRAP53, CTC1, THBD, C3, CD46, CFH, CFI, CFB, JAK3, NCF4, NCF2, SH2D1A, MEFV, ADAR, IFIH1, HELLS, PSMB8, CSF2RB, CSF2RA, DOCK8, PARN, TERT, TERC, LYST, UNC119, CTSC, DKC1, MAGT1, FOXP3, MVK, NLRP3, ACTB, TBX1, VPS13B, TREX1, OFD1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, PIGA, BTK, WAS, RTEL1, SLC7A7, DCLRE1C, CYBB, G6PD, PRF1, SBDS, GATA2, NBN, MRE11, ATM, TINF2, RMRP, NRAS, KRAS, CHD7, CDCA7, NSMCE3, IFNAR2, CD55, RORC, DCLRE1B, DOCK2, MAP3K14, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, SP110, RPSA, IKBKB, LCK, CTPS1, ERCC6L2, ZBTB24, POLE, ZAP70, RAG1, RAG2, IL7R, BLM, CFTR, AIRE, PNP, IL2RG, MOGS, ADA, STAT3, CYBA, SLC35C1, AK2, TCN2, TAP1, UNG, AP3B1, HAX1, CLCN7, CASP8, SLC37A4, STAT1, RECQL4, PMS2 Specificity 2 % Genes 25 %
Noonan Syndrome Panel. By Insight Medical Genetics in United States. CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 34 % Genes 20 %
NRAS Mutation by Sequencing. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. NRAS Specificity 100 % Genes 5 %
Focus::Myeloid™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...) View the complete list with 34 more genes Panel GTR000522550 complete gene list CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 23 % Genes 60 %
Focus::MDS™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, JAK2, FLT3, ASXL1, KMT2A, KDM6A, EZH2, DNMT3A, SETBP1, CEBPA, CBL, PTPN11, NRAS , (...) View the complete list with 7 more genes Panel GTR000557730 complete gene list ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, JAK2, FLT3, ASXL1, KMT2A, KDM6A, EZH2, DNMT3A, SETBP1, CEBPA, CBL, PTPN11, NRAS, KRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1 Specificity 38 % Genes 50 %
Focus::Oncomine™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. JAK1, ESR1, ROS1, ERBB4, SMO, ERBB2, DDR2, AKT1, GNA11, IDH1, PDGFRA, JAK2, EGFR, GNAQ, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1 , (...) View the complete list with 15 more genes Panel GTR000557735 complete gene list JAK1, ESR1, ROS1, ERBB4, SMO, ERBB2, DDR2, AKT1, GNA11, IDH1, PDGFRA, JAK2, EGFR, GNAQ, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1, MET, CDK4, ALK, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RAF1, RET Specificity 9 % Genes 15 %
Focus::CLL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS , (...) View the complete list with 5 more genes Panel GTR000557736 complete gene list XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS, MAP2K1, KRAS, BRAF, TP53, PTEN Specificity 8 % Genes 10 %
Noonan syndrome type 6. By Bioarray in Spain. NRAS Specificity 100 % Genes 5 %
Hypertrophic Cardiomyopathy Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, LAMP2, MYBPC3, MYH7, MAP2K2, RIT1 , (...) View the complete list with 11 more genes Panel GTR000522205 complete gene list MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, LAMP2, MYBPC3, MYH7, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, RAF1, TTR Specificity 10 % Genes 15 %
Severe Congenital Neutropenia Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. CXCR2, JAGN1, CXCR4, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, VPS13B, WAS, SBDS, GATA2, NRAS, KRAS, TCIRG1, TAZ , (...) View the complete list with 4 more genes Panel GTR000530631 complete gene list CXCR2, JAGN1, CXCR4, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, VPS13B, WAS, SBDS, GATA2, NRAS, KRAS, TCIRG1, TAZ, AP3B1, HAX1, SLC37A4, RUNX1 Specificity 17 % Genes 20 %
Noonan Syndrome Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CBL, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1 Specificity 45 % Genes 20 %
NRAS Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. NRAS Specificity 100 % Genes 5 %
Cancer Hotspot Analysis. By Advanced Technology Laboratory Spectrum Health in United States. ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...) View the complete list with 30 more genes Panel GTR000528929 complete gene list ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3, KIT, SMARCB1, EZH2, NOTCH1, CTNNB1, FGFR1, MPL, SMAD4, MET, CDKN2A, STK11, CDH1, ATM, ALK, FGFR2, PTPN11, NRAS, KRAS, HRAS, BRAF, FGFR3, IDH2, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL Specificity 10 % Genes 25 %
Noonan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. SPRED1, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, HRAS, BRAF, RAF1 Specificity 25 % Genes 15 %
Melanoma: Gene Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. WRN, BAP1, MGMT, KIT, CDKN2A, CDK4, NRAS, RB1, TP53, PTEN, BRCA1 Specificity 10 % Genes 5 %
Melanoma: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. WRN, BAP1, KIT, CDKN2A, CDK4, NRAS, BRAF, RB1, TP53, PTEN, BRCA2 Specificity 10 % Genes 5 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...) View the complete list with 28 more genes Panel GTR000560474 complete gene list ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3, KIT, SMARCB1, NOTCH1, CTNNB1, FGFR1, MPL, SMAD4, MET, CDKN2A, STK11, CDH1, ATM, ALK, FGFR2, PTPN11, NRAS, KRAS, HRAS, BRAF, FGFR3, RET, RB1, HNF1A, TP53, PTEN, MLH1, APC, VHL Specificity 9 % Genes 20 %
Noonan syndrome 6 (NRAS). By Center for Human Genetics, Inc in United States. NRAS Specificity 100 % Genes 5 %
Noonan Syndrome 11-Gene Sequencing Panel. By Center for Human Genetics, Inc in United States. LZTR1, CBL, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, KRAS, BRAF, RAF1 Specificity 37 % Genes 20 %
Rasopathy NextGen Panel. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. PPP1CB, A2ML1, RRAS, RASA2, SPRED1, LZTR1, ACTG1, ACTB, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF , (...) View the complete list with 1 more genes Panel GTR000554042 complete gene list PPP1CB, A2ML1, RRAS, RASA2, SPRED1, LZTR1, ACTG1, ACTB, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 24 % Genes 25 %
Noonan Syndrome Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 34 % Genes 20 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3 , (...) View the complete list with 33 more genes Panel GTR000561050 complete gene list BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 23 % Genes 60 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...) View the complete list with 33 more genes Panel GTR000561051 complete gene list TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 21 % Genes 56 %
NRAS-Related Noonan syndrome. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. NRAS Specificity 100 % Genes 5 %
Prenatal Noonan Spectrum Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 30 % Genes 15 %
Noonan syndrome/RASopathy Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 37 % Genes 20 %
TumorNext-Lynch+ColoNext. By Ambry Genetics in United States. POLE, GREM1, POLD1, SMAD4, BMPR1A, CHEK2, STK11, CDH1, NRAS, KRAS, BRAF, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC Specificity 10 % Genes 10 %
TumorNext-Lynch. By Ambry Genetics in United States. NRAS, KRAS, BRAF, MLH1, MSH6, PMS2, MSH2, EPCAM Specificity 25 % Genes 10 %
NRAS. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NRAS Specificity 100 % Genes 5 %
Noonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2, and SPRED1 Next Generation Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 34 % Genes 20 %
Noonan Syndrome Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 34 % Genes 20 %
NRAS-related Noonan Syndrome. By ChildLab Molecular Genetics Laboratory Nationwide Children's Hospital in United States. NRAS Specificity 100 % Genes 5 %
Noonan syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. SOS1, PTPN11, NRAS, KRAS, RAF1 Specificity 60 % Genes 15 %
Noonan Syndrome via the NRAS Gene. By PreventionGenetics PreventionGenetics in United States. NRAS Specificity 100 % Genes 5 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...) View the complete list with 29 more genes Panel GTR000555626 complete gene list MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, FBN2, TGFBR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, MYBPC3, MYH7, DES, CAV3, LMNA, FKTN, NRAS, FBN1, DSP, EYA4, TTR Specificity 3 % Genes 5 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN , (...) View the complete list with 62 more genes Panel GTR000556195 complete gene list CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, RYR2, PKP2, ABCC9, TGFBR2, LAMP2, MYO6, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, FKTN, PRKAR1A, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, TAZ, SCO2, RAF1, CRYAB, DSP, EYA4, GAA, TTR Specificity 4 % Genes 15 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PRKCD, CTLA4, FADD, LRBA, PIK3CD, ITK, CASP10, FASLG, XIAP, FAS, SH2D1A, MAGT1, NRAS, KRAS, STAT3, CASP8 Specificity 13 % Genes 10 %
Noonan syndrome core NGS panel. By Connective Tissue Gene Tests in United States. LZTR1, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 29 % Genes 20 %
Noonan syndrome - different panels. By Institute of Human Genetics Cologne University in Germany. A2ML1, RRAS, RASA2, LZTR1, RIT1, SOS2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1 Specificity 31 % Genes 20 %
Colorectal adenocarcinoma, somatic mutation sequencing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. PIK3CA, NRAS, KRAS, BRAF Specificity 50 % Genes 10 %
Melanoma, somatic mutation sequencing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. GNA11, GNAQ, KIT, NRAS, BRAF Specificity 20 % Genes 5 %
Myeloid Tumor Panel. By Centogene AG - the Rare Disease Company in Germany. CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...) View the complete list with 34 more genes Panel GTR000527964 complete gene list CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, CDKN2A, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 23 % Genes 60 %
Autoimmune lymphoproliferative syndrome type 4. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
Epidermal nevus, somatic. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
Neurocutaneous melanosis, somatic. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
Colorectal cancer, hereditary. By Centogene AG - the Rare Disease Company in Germany. NRAS Specificity 100 % Genes 5 %
Noonan Syndrome. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1 Specificity 43 % Genes 15 %
NRAS. By MVZ Dortmund Dr. Eberhard & Partner in Germany. NRAS Specificity 100 % Genes 5 %
Noonan Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. SPRED1, KAT6B, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 31 % Genes 20 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease. By Health in Code in Spain. FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...) View the complete list with 121 more genes Panel GTR000521473 complete gene list FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, MYLK2, ACTC1, PDLIM3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 15 %
Rasopathies NGS Panel. By Health in Code in Spain. SPRED1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 34 % Genes 20 %
Congenital Heart Diseases Panel. By Health in Code in Spain. TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1 , (...) View the complete list with 19 more genes Panel GTR000521480 complete gene list TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1, FLNA, MYBPC3, MYH7, TTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1, JAG1, PITX2, EYA4, ELN Specificity 11 % Genes 20 %
Primary lymphedema and Hydrops fetalis. By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. EPHB4, ITGA9, GJA1, FLT4, PTPN14, KIF11, VEGFC, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, HGF, GATA2, SOS1, PTPN11, NRAS, KRAS, IKBKG , (...) View the complete list with 3 more genes Panel GTR000332139 complete gene list EPHB4, ITGA9, GJA1, FLT4, PTPN14, KIF11, VEGFC, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, HGF, GATA2, SOS1, PTPN11, NRAS, KRAS, IKBKG, HRAS, GJC2, RAF1 Specificity 18 % Genes 20 %
NRAS Exons 2 and 3 Mutation Analysis. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. NRAS Specificity 100 % Genes 5 %
Noonan syndrome 6. By Praxis fuer Humangenetik Wien in Austria. NRAS Specificity 100 % Genes 5 %
Noonan syndrome 6. By MedGene in Slovakia. NRAS Specificity 100 % Genes 5 %
Noonan Syndrome: NRAS Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NRAS Specificity 100 % Genes 5 %
Noonan Syndrome: NRAS Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NRAS Specificity 100 % Genes 5 %
Comprehensive Cardiovascular: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...) View the complete list with 97 more genes Panel GTR000523310 complete gene list CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, SLC22A5, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 3 % Genes 15 %
Cardiomyopathy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 42 more genes Panel GTR000558598 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, GAA, TTR Specificity 5 % Genes 15 %
Hypertrophic Cardiomyopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...) View the complete list with 43 more genes Panel GTR000515895 complete gene list TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, TTR Specificity 5 % Genes 15 %
Comprehensive Short Stature Syndrome Panel. By Blueprint Genetics in Finland. IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...) View the complete list with 55 more genes Panel GTR000552721 complete gene list IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN, SRCAP, NOTCH2, STAT5B, INSR, RBBP8, B3GAT3, GNAS, TRIM37, EP300, LHX3, LHX4, TBX19, ATR, PCNT, GLI2, CEP152, RRAS, RASA2, SOX3, LZTR1, ACTG1, ACTB, FGD1, CENPJ, GHR, GH1, POU1F1, SHOX, GHRHR, PROP1, NIPBL, SMC1A, SMC3, CBL, RAD21, MAP2K2, RIT1, HDAC8, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, DHCR7, CREBBP, BRAF, FGFR3, HESX1, SOX2, RAF1, OTX2, PITX2, BCS1L Specificity 7 % Genes 25 %
Anti-EGFR antibody therapy response in metastatic colorectal Carcinoma. By HeartGenetics, Genetics and Biotechnology, SA in Portugal. NRAS, KRAS, BRAF Specificity 67 % Genes 10 %
Focus::Myeloid™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR , (...) View the complete list with 30 more genes Panel GTR000557727 complete gene list CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR, JAK3, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, NOTCH1, GATA1, SETBP1, PHF6, ATRX, MPL, CEBPA, GATA2, SMC1A, SMC3, CBL, RAD21, PTPN11, NRAS, KRAS, HRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1, PTEN Specificity 22 % Genes 56 %
Liquid::Lung-cfDNA™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. ROS1, ERBB2, EGFR, PIK3CA, MET, ALK, NRAS, MAP2K1, KRAS, BRAF, TP53 Specificity 19 % Genes 10 %
Focus::AML™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. BCORL1, CSF3R, ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, CALR, ASXL1, KIT, KMT2A, KDM6A, EZH2 , (...) View the complete list with 17 more genes Panel GTR000557734 complete gene list BCORL1, CSF3R, ETV6, IDH1, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3, CALR, ASXL1, KIT, KMT2A, KDM6A, EZH2, DNMT3A, GATA1, SETBP1, PHF6, MPL, CEBPA, GATA2, CBL, PTPN11, NRAS, KRAS, BRAF, BCOR, IDH2, WT1, TP53, RUNX1 Specificity 30 % Genes 56 %
CardioGene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 60 more genes Panel GTR000515873 complete gene list TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, TAZ, RAF1, DSP, TTR Specificity 4 % Genes 15 %
Cardiomyopathy Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 39 more genes Panel GTR000522202 complete gene list TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, LMNA, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, TAZ, RAF1, DSP, TTR Specificity 6 % Genes 15 %
Nevus Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. GNA11, GNAQ, PIK3CA, NRAS, KRAS, HRAS, FGFR3 Specificity 29 % Genes 10 %
Noonan Syndrome and related disorders (RASopathies) Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 37 % Genes 20 %
Exome. By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil. IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...) View the complete list with 46 more genes Panel GTR000530118 complete gene list IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3, ATXN8OS, TBP, ATXN2, SERPINA1, CDH1, TSC1, ATXN1, PTPN11, NRAS, DMPK, MAP2K1, KRAS, IDS, DMD, CHD7, CDKL5, BRAF, CFTR, FGFR3, COL5A2, COL5A1, MEN1, FXN, ABCD1, FBN1, MECP2, AFG3L2, RET, TGFB1, PRKCG, COL3A1, COL1A2, COL1A1, COL2A1, ALPL, TP53, PTEN, MUTYH, APC, UBE3A, TTR, HFE, HTT, FMR1, BRCA2, BRCA1 Specificity 5 % Genes 15 %
Comprehensive Panel for Individualized Cancer Threatment. By GeneKor MSA in Greece. ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA , (...) View the complete list with 32 more genes Panel GTR000527980 complete gene list ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3, KIT, SMARCB1, EZH2, NOTCH1, CTNNB1, HGF, FGFR1, NTRK1, MPL, SMAD4, CDKN2A, CDH1, ATM, ALK, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, FGFR3, IDH2, RET, RB1, HNF1A, TP53, PTEN, APC, VHL Specificity 10 % Genes 25 %
Cardiomyopathy Exome Panel. By Northwest Clinical Genomics Laboratory University of Washington in United States. CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 55 more genes Panel GTR000551457 complete gene list CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, TAZ, RAF1, CRYAB, DSP, PSEN1, GAA, TTR Specificity 6 % Genes 20 %
Circulo Colorectal. By Circulogene Theranostics in United States. NRAS Specificity 100 % Genes 5 %
Circulo Lung. By Circulogene Theranostics in United States. NRAS Specificity 100 % Genes 5 %
Circulo Thyroid. By Circulogene Theranostics in United States. NRAS Specificity 100 % Genes 5 %
Circulo Melanoma. By Circulogene Theranostics in United States. NRAS Specificity 100 % Genes 5 %
Circulo Hematological. By Circulogene Theranostics in United States. NRAS Specificity 100 % Genes 5 %
LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE. By Laboratorio de Genetica Clinica SL in Spain. CASP10, FASLG, FAS, NRAS, CASP8 Specificity 20 % Genes 5 %
NOONAN SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. SOS1, PTPN11, NRAS, MAP2K1, KRAS, BRAF, RAF1 Specificity 43 % Genes 15 %
Solid Tumor Targeted Mutation and Fusion Panel. By Providence Regional Laboratories Providence Health and Services in United States. ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1 , (...) View the complete list with 30 more genes Panel GTR000556836 complete gene list ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, MYCN, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1, FGFR1, NTRK1, MET, CDK4, ALK, MAP2K2, FGFR2, NRAS, MAP2K1, KRAS, HRAS, BRAF, AR, FGFR3, IDH2, RAF1, RET, PPARG Specificity 6 % Genes 15 %
Noonan Syndrome Type 6 , Sequencing NRAS Gene. By Reference Laboratory Genetics in Spain. NRAS Specificity 100 % Genes 5 %
Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes. By Reference Laboratory Genetics in Spain. CTLA4, FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8 Specificity 20 % Genes 10 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MIER3, TCERG1, ATP6V0D2, ACVR1B, PTPN12, GALNT17, MAP2K4, MAP7, FZD3, MYO1B, CDC27, TCF7L2, BAX, DCC, ERBB2, MSH3, GPC6, PIK3R1, AKT1, FBXW7 , (...) View the complete list with 18 more genes Panel GTR000560393 complete gene list MIER3, TCERG1, ATP6V0D2, ACVR1B, PTPN12, GALNT17, MAP2K4, MAP7, FZD3, MYO1B, CDC27, TCF7L2, BAX, DCC, ERBB2, MSH3, GPC6, PIK3R1, AKT1, FBXW7, PIK3CA, SMAD2, EP300, SLC9A9, TGFBR2, CTNNB1, SMAD4, ATM, NRAS, KRAS, DMD, BRAF, CASP8, TP53, MLH1, MSH6, MSH2, APC Specificity 6 % Genes 10 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS , (...) View the complete list with 12 more genes Panel GTR000560473 complete gene list ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS, HRAS, BRAF, IDH2, RET, RB1, WT1, TP53, PTEN, APC, VHL, BRCA2, BRCA1 Specificity 7 % Genes 10 %
Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago in United States. CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...) View the complete list with 153 more genes Panel GTR000500162 complete gene list CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR, NRXN2, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD2, PGAP1, ARID1A, SMARCB1, SMARCA4, SOX11, DNMT3A, PCNT, NSUN2, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, ZNF41, ZNF711, MAGT1, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, MED12, MID1, ADNP, PTCHD1, PRPS1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, DYRK1A, GRIN1, NRXN1, ST3GAL3, NEXMIF, PURA, SRPX2, FLNA, PQBP1, DCX, DEAF1, MBD5, GRIN2A, GRIN2B, SCN2A, DYNC1H1, KIF1A, L1CAM, SMC1A, SYNGAP1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, ZNF407, ADAT3, CLIP1, CRADD, EZR, FBXO31, FMN2, WASHC4, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CDKL5, ARX, SLC6A8, L2HGDH, ALDH5A1, BCOR, SLC9A6, ACSL4, MAOA, PDHA1, D2HGDH, ALG6, TUSC3, TUBA1A, STXBP1, IDH2, MECP2, NHS, HPRT1, OCRL, HSD17B10, UBE3A, FMR1 Specificity 1 % Genes 5 %
Overgrowth syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1 Specificity 19 % Genes 10 %
Macrocephaly. By MGZ Medical Genetics Center in Germany. DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B , (...) View the complete list with 22 more genes Panel GTR000521142 complete gene list DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B, HUWE1, CHD8, MED12, GFAP, RAB39B, CUL4B, SYN1, GRIA3, OFD1, SETD2, WASHC5, L1CAM, EIF2B5, MLC1, GPC3, CDKN1C, PTCH1, NSD1, TSC1, TSC2, ASPA, PTEN Specificity 5 % Genes 10 %
DNMT3A Exon 23 Sequence Analysis. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. DNMT3A Specificity 100 % Genes 5 %
DNMT3A. By Fulgent Genetics Fulgent Genetics in United States. DNMT3A Specificity 100 % Genes 5 %
DNMT3A Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. DNMT3A Specificity 100 % Genes 5 %
NGS Overgrowth/Macrocephaly Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GLI3, RNF135, EZH2, NFIX, DNMT3A, UPF3B, MED12, CUL4B, PHF6, GPC3, CDKN1C, PTCH1, NSD1, PTEN Specificity 15 % Genes 10 %
DNMT3A Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. DNMT3A Specificity 100 % Genes 5 %
Overgrowth syndrome NGS panel. By Connective Tissue Gene Tests in United States. EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1 Specificity 19 % Genes 10 %
Overgrowth syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1 Specificity 19 % Genes 10 %
DNMT3A. By MGZ Medical Genetics Center in Germany. DNMT3A Specificity 100 % Genes 5 %
AML post-FLT3 Comprehensive Mutation Panel. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. IDH1, NPM1, DNMT3A, CEBPA, IDH2 Specificity 20 % Genes 5 %
Macrocephaly / Overgrowth Syndrome Panel. By Blueprint Genetics in Finland. EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B , (...) View the complete list with 23 more genes Panel GTR000552655 complete gene list EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B, HUWE1, CHD8, MED12, GFAP, RAB39B, CUL4B, SYN1, GRIA3, OFD1, PIGA, SETD2, WASHC5, L1CAM, EIF2B5, MLC1, GPC3, CDKN1C, PTCH1, NSD1, TSC1, TSC2, ASPA, PTEN Specificity 5 % Genes 10 %
Focus::MPN™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. CSF3R, IDH1, MYD88, SF3B1, SRSF2, TET2, U2AF1, ABL1, JAK2, FLT3, CALR, JAK3, ASXL1, KIT, EZH2, DNMT3A, GATA1, SETBP1, MPL, CEBPA , (...) View the complete list with 5 more genes Panel GTR000557731 complete gene list CSF3R, IDH1, MYD88, SF3B1, SRSF2, TET2, U2AF1, ABL1, JAK2, FLT3, CALR, JAK3, ASXL1, KIT, EZH2, DNMT3A, GATA1, SETBP1, MPL, CEBPA, CBL, BCOR, IDH2, TP53, RUNX1 Specificity 29 % Genes 35 %
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. TMCO1, DIS3L2, RNF135, EZH2, NFIX, DNMT3A, SETD2, GPC3, CDKN1C, PTCH1, NSD1, PLOD1, PTEN Specificity 16 % Genes 10 %
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes. By Reference Laboratory Genetics in Spain. SH3GL1, LPP, CBFB, PICALM, IDH1, JAK2, NPM1, FLT3, ASXL1, KIT, TERT, TERC, DNMT3A, CEBPA, GATA2, NSD1, KRAS, IDH2, WT1, TP53 , (...) View the complete list with 1 more genes Panel GTR000559872 complete gene list SH3GL1, LPP, CBFB, PICALM, IDH1, JAK2, NPM1, FLT3, ASXL1, KIT, TERT, TERC, DNMT3A, CEBPA, GATA2, NSD1, KRAS, IDH2, WT1, TP53, RUNX1 Specificity 24 % Genes 25 %
Cornelia de Lange Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8 Specificity 13 % Genes 5 %
Cornelia de Lange Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8 Specificity 13 % Genes 5 %
Bohring-Opitz syndrome (sequence analysis of ASXL1 gene). By CGC Genetics in Portugal. ASXL1 Specificity 100 % Genes 5 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...) View the complete list with 238 more genes Panel GTR000558369 complete gene list TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1, IHH, BHLHA9, SMOC1, WNT3, BMP2, NPR2, PCYT1A, SLCO2A1, MMP9, INPPL1, SNX10, MMP13, EOGT, DDR2, TBX3, HDAC4, MEOX1, MATN3, TRAPPC2, GDF5, PTHLH, HPGD, RBPJ, DOCK6, LFNG, HES7, MMP2, MESP2, WISP3, SF3B4, DMP1, SLC34A3, ENPP1, FAM111A, CCDC8, OBSL1, ORC4, ORC6, CDT1, CDC6, ORC1, ALX3, TCF12, ERF, MEGF8, BMPER, PTDSS1, PDE4D, CUL7, LRP4, ARSE, WDR60, NEK1, IRF6, CCNQ, WNT7A, TBX15, ROR2, HOXA13, ESCO2, DYNC2H1, RIN2, WNT5A, CEP120, SRCAP, AFF4, TCTN3, SMARCAL1, MGP, EXT1, EXT2, GDF3, ALX1, FREM1, HOXA11, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, TTC21B, GORAB, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, SH3BP2, ASXL1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, LHX4, FGF10, RIPK4, ZMPSTE24, PITX1, PIEZO2, WDR19, BMPR1B, CDH3, IFT140, GDF6, TP63, GLI3, NFIX, ACVR1, ZNF469, CHST14, TNXB, FKBP14, FBN2, SKI, TGFBR2, TGFBR1, DYM, ADAMTSL2, PCNT, SOX9, COMP, TWIST1, MSX2, RAB23, NSDHL, EBP, PTH1R, CANT1, WDR35, POLR1D, CHSY1, TCOF1, POLR1C, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, LBR, FGD1, ANKRD11, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, PROK2, SHOX, FGFR1, TRPV4, SLC26A2, PEX7, ADAMTS2, PRKAR1A, TRPS1, ADAMTS10, RAB33B, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, DLL3, NKX3-2, IMPAD1, CHST3, HOXD13, GPC6, SBDS, GPC3, NSD1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, VDR, RUNX2, RMRP, PLOD1, CREBBP, COL10A1, FGFR3, COL5A2, COL5A1, LMX1B, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CYP27B1, CTSK, AMER1, AGPS, SQSTM1, PLOD2, CRTAP, P3H1, COG1, SLC39A13, SP7, SERPINF1, DHODH, FBN1, SHH, CLCN7, TNFRSF11A, LEMD3, TGFB1, SOST, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 5 %
Bohring-Opitz syndrome. By Centogene AG - the Rare Disease Company in Germany. ASXL1 Specificity 100 % Genes 5 %
ASXL1. By Fulgent Genetics Fulgent Genetics in United States. ASXL1 Specificity 100 % Genes 5 %
Somatic Myelodysplastic Syndrome , Sequencing ASXL1 Gene. By Reference Laboratory Genetics in Spain. ASXL1 Specificity 100 % Genes 5 %
Somatic Myelodysplastic Syndrome , Sequencing Exon 13 ASXL1 Gene. By Reference Laboratory Genetics in Spain. ASXL1 Specificity 100 % Genes 5 %
Craniosynostosis. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. IFT122, IL11RA, IFT43, MASP1, ASXL1, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3 , (...) View the complete list with 3 more genes Panel GTR000552209 complete gene list IFT122, IL11RA, IFT43, MASP1, ASXL1, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, FBN1, ALPL, RECQL4 Specificity 5 % Genes 5 %
Craniosynostosis. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, ASXL1, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23 , (...) View the complete list with 6 more genes Panel GTR000327663 complete gene list TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, ASXL1, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, RUNX2, FGFR3, RECQL4 Specificity 4 % Genes 5 %
Cornelia de Lange Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. ASXL3, ASXL1, ANKRD11, NIPBL, SMC1A, SMC3, RAD21, HDAC8 Specificity 13 % Genes 5 %
Myeloproliferative/myelodysplastic disorder (sequence analysis of ASXL1 gene). By CGC Genetics in Portugal. ASXL1 Specificity 100 % Genes 5 %
Bohring-Opitz Syndrome via ASXL1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ASXL1 Specificity 100 % Genes 5 %
Single gene testing ASXL1. By CeGaT GmbH in Germany. ASXL1 Specificity 100 % Genes 5 %
ASXL1 Mutation Analysis. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. ASXL1 Specificity 100 % Genes 5 %
Bohring-Opitz Syndrome , Sequencing ASXL1 Gene. By Reference Laboratory Genetics in Spain. ASXL1 Specificity 100 % Genes 5 %
KRAS Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. KRAS Specificity 100 % Genes 5 %
KRAS related Noonan syndrome. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. KRAS Specificity 100 % Genes 5 %
KRAS gene sequence. By Ambry Genetics in United States. KRAS Specificity 100 % Genes 5 %
Noonan Syndrome and Cardiofaciocutaneous Syndrome - KRAS Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. KRAS Specificity 100 % Genes 5 %
KRAS-Related Noonan Syndrome. By ChildLab Molecular Genetics Laboratory Nationwide Children's Hospital in United States. KRAS Specificity 100 % Genes 5 %
Noonan syndrome (sequence analysis of KRAS gene). By CGC Genetics in Portugal. KRAS Specificity 100 % Genes 5 %
KRAS-Related Disorders via the KRAS Gene. By PreventionGenetics PreventionGenetics in United States. KRAS Specificity 100 % Genes 5 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...) View the complete list with 87 more genes Panel GTR000558794 complete gene list MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L, ABCA7, MYT1L, MED13L, BCL11A, CACNA2D3, POGZ, CUL3, ASXL3, CC2D1A, C12orf57, ZNF407, SETD5, ZMYND11, GRIP1, TBC1D20, PACS1, AUTS2, KATNAL2, KMT2A, MAGEL2, ANK2, NFIX, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, CACNA1C, EHMT1, FOXP1, ADNP, PTCHD1, SHANK2, SHANK3, VPS13B, RAB39B, CNTNAP2, TCF4, ANKRD11, DYRK1A, NRXN1, NEXMIF, RELN, PQBP1, DEAF1, BCKDK, MBD5, CHD2, KCNQ3, HCN1, GRIN2B, FOLR1, SLC6A1, SCN2A, GABRB3, SPAST, SCN1A, POMGNT1, SMAD4, NSD1, TSC1, RAD21, TSC2, RAI1, PCDH19, KRAS, FOXG1, DHCR7, CHD7, CDKL5, BRAF, ARX, SGSH, SLC9A6, MAOA, STXBP1, GATM, GAMT, MECP2, NDP, MFRP, ADSL, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Lynch Syndrome. By MGZ Medical Genetics Center in Germany. KRAS, BRAF, MLH1, MSH6, PMS2, MSH2 Specificity 17 % Genes 5 %
KRAS Sequencing. By FirmaLab in United States. KRAS Specificity 100 % Genes 5 %
Noonan syndrome type 3. By Centogene AG - the Rare Disease Company in Germany. KRAS Specificity 100 % Genes 5 %
Gastric cancer, somatic. By Centogene AG - the Rare Disease Company in Germany. KRAS Specificity 100 % Genes 5 %
Lung cancer, somatic. By Centogene AG - the Rare Disease Company in Germany. KRAS Specificity 100 % Genes 5 %
Pancreatic carcinoma, somatic. By Centogene AG - the Rare Disease Company in Germany. KRAS Specificity 100 % Genes 5 %
Single gene testing KRAS. By CeGaT GmbH in Germany. KRAS Specificity 100 % Genes 5 %
Noonan Syndrome. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. SOS1, PTPN11, KRAS, RAF1 Specificity 50 % Genes 10 %
Breast and Ovarian Cancer. By Asper Biogene Asper Biogene LLC in Estonia. CHD1, RAD51, XRCC2, FANCD2, FANCE, FANCF, FANCG, FANCA, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, PALB2, NBN, MRE11, ATM, KRAS, FANCC , (...) View the complete list with 9 more genes Panel GTR000326160 complete gene list CHD1, RAD51, XRCC2, FANCD2, FANCE, FANCF, FANCG, FANCA, RAD51D, BARD1, RAD51C, BRIP1, CHEK2, STK11, PALB2, NBN, MRE11, ATM, KRAS, FANCC, MEN1, CASP8, TP53, MUTYH, MLH1, MSH6, MSH2, BRCA2, BRCA1 Specificity 4 % Genes 5 %
CRANEO-FACIAL-CUTANEOUS SYNDROME. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. MAP2K2, SOS1, MAP2K1, KRAS, BRAF Specificity 20 % Genes 5 %
Cardiofaciocutaneous syndrome. By MedGene in Slovakia. KRAS Specificity 100 % Genes 5 %
Noonan syndrome 3. By MedGene in Slovakia. KRAS Specificity 100 % Genes 5 %
KRAS Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. KRAS Specificity 100 % Genes 5 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SHOX2, IGF1R, IGF1, TBCE, WRN, CUL7, ROR2, SRCAP, SMARCAL1, STAT5B, INSR, TRIM37, EP300, THRB, LHX3, ERCC6, KDM6A, GLI2, SOX3, RPS6KA3 , (...) View the complete list with 25 more genes Panel GTR000512423 complete gene list SHOX2, IGF1R, IGF1, TBCE, WRN, CUL7, ROR2, SRCAP, SMARCAL1, STAT5B, INSR, TRIM37, EP300, THRB, LHX3, ERCC6, KDM6A, GLI2, SOX3, RPS6KA3, FGD1, ATRX, KMT2D, GHR, GH1, POU1F1, SHOX, GHRHR, BTK, PROP1, NBN, NIPBL, SMC1A, ERCC8, SMC3, SOS1, PTPN11, KRAS, DHCR7, CREBBP, BLM, HESX1, SOX2, RAF1, PITX2 Specificity 5 % Genes 10 %
KRAS Full Gene Analysis. By Fulgent Genetics Fulgent Genetics in United States. KRAS Specificity 100 % Genes 5 %
Cardio-Facio-Cutaneous Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MAP2K2, SOS1, MAP2K1, KRAS, BRAF Specificity 20 % Genes 5 %
KRAS Mutation Analysis. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. KRAS Specificity 100 % Genes 5 %
Circulo Breast. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
Circulo Colorectal. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
Circulo Ovarian. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
Circulo Melanoma. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
Circulo Thyroid. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
Circulo Hematological. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
Circulo Pancreatic. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
Circulo Gastric. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
LEUKEMIA, ACUTE MYELOGENOUS. By Laboratorio de Genetica Clinica SL in Spain. NPM1, KRAS Specificity 50 % Genes 5 %
PANCREATIC CARCINOMA. By Laboratorio de Genetica Clinica SL in Spain. KRAS Specificity 100 % Genes 5 %
Cardiofaciocutaneous Syndrome Type 2, Sequencing KRAS Gene. By Reference Laboratory Genetics in Spain. KRAS Specificity 100 % Genes 5 %
Cardio-facio-cutaneous syndrome. By Labor Dr. Wisplinghoff in Germany. MAP2K2, KRAS, BRAF Specificity 34 % Genes 5 %
GeneStrat Genomic Test. By Biodesix, Inc. Biodesix, Inc. in United States. ROS1, EGFR, ALK, KRAS, BRAF, RET Specificity 17 % Genes 5 %
KRAS Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. KRAS Specificity 100 % Genes 5 %
KRAS Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. KRAS Specificity 100 % Genes 5 %
KRAS/RAF1/SOS1 DNA Sequencing Evaluation. By Athena Diagnostics Inc in United States. SOS1, KRAS, RAF1 Specificity 34 % Genes 5 %
KRAS DNA Sequencing Test. By Athena Diagnostics Inc in United States. KRAS Specificity 100 % Genes 5 %
Cardiofaciocutaneous Syndrome. By Center for Human Genetics, Inc in United States. MAP2K2, MAP2K1, KRAS, BRAF Specificity 25 % Genes 5 %
Cardio-facio-cutaneous syndrome. By Center for Human Genetics, Inc in United States. MAP2K2, MAP2K1, KRAS, BRAF Specificity 25 % Genes 5 %
Noonan syndrome 3 (KRAS). By Center for Human Genetics, Inc in United States. KRAS Specificity 100 % Genes 5 %
Costello Syndrome. By Center for Human Genetics, Inc in United States. KRAS, HRAS, BRAF Specificity 34 % Genes 5 %
KRAS Mutation Analysis. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. KRAS Specificity 100 % Genes 5 %
KRAS Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. KRAS Specificity 100 % Genes 5 %
KRAS Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. KRAS Specificity 100 % Genes 5 %
KRAS Molecular Genetic Testing. By Michigan State University Clinical Genetics Laboratory Michigan State University in United States. KRAS Specificity 100 % Genes 5 %
KRAS-Related Noonan Syndrome. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. KRAS Specificity 100 % Genes 5 %
Noonan Syndrome Panel. By Ambry Genetics in United States. SOS1, PTPN11, KRAS, RAF1 Specificity 50 % Genes 10 %
KRAS. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRAS Specificity 100 % Genes 5 %
PTPN11, RAF1, SOS1, KRAS, BRAF. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SOS1, PTPN11, KRAS, RAF1 Specificity 50 % Genes 10 %
KRAS-Related Noonan Syndrome. By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine. in Spain. KRAS Specificity 100 % Genes 5 %
KRAS gene (sequence analysis). By CGC Genetics in Portugal. KRAS Specificity 100 % Genes 5 %
Detection of frequent mutations on KRAS gene. By CGC Genetics in Portugal. KRAS Specificity 100 % Genes 5 %
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, RYR2 , (...) View the complete list with 18 more genes Panel GTR000555667 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, RYR2, LAMP2, MYO6, TCAP, MYBPC3, FHL1, BAG3, LDB3, MYH7, TTN, CAV3, PRKAR1A, PTPN11, KRAS, GLA, SCO2, RAF1, GAA, TTR Specificity 6 % Genes 10 %
Cardiofaciocutaneous Syndrome Panel. By FirmaLab in United States. MAP2K2, KRAS, BRAF Specificity 34 % Genes 5 %
Noonan Syndrome Sequential Panel. By FirmaLab in United States. SOS1, PTPN11, KRAS, RAF1 Specificity 50 % Genes 10 %
Breast cancer, somatic. By Centogene AG - the Rare Disease Company in Germany. KRAS Specificity 100 % Genes 5 %
Bladder cancer, somatic. By Centogene AG - the Rare Disease Company in Germany. KRAS Specificity 100 % Genes 5 %
Cardiofaciocutaneous syndrome. By Centogene AG - the Rare Disease Company in Germany. KRAS Specificity 100 % Genes 5 %
Noonan syndrome. By bio.logis Center for Human Genetics Diagnosticum in Germany. SOS1, PTPN11, KRAS, BRAF, RAF1 Specificity 40 % Genes 10 %
Bladder cancer, somatic (KRAS). By MVZ Dortmund Dr. Eberhard & Partner in Germany. KRAS Specificity 100 % Genes 5 %
Cardiofaciocutaneous syndrome 2 (KRAS). By MVZ Dortmund Dr. Eberhard & Partner in Germany. KRAS Specificity 100 % Genes 5 %
Rasopathies SANGER Panel. By Health in Code in Spain. MAP2K2, MAP2K1, KRAS, BRAF Specificity 25 % Genes 5 %
KRAS gene sequencing. By Health in Code in Spain. KRAS Specificity 100 % Genes 5 %
Hypertrophic cardiomyopathy with suspected Noonan Syndrome. By Health in Code in Spain. PTPN11, KRAS Specificity 100 % Genes 10 %
Cardiofaciocutaneous syndrome. By Praxis fuer Humangenetik Wien in Austria. KRAS Specificity 100 % Genes 5 %
Noonan syndrome 3. By Praxis fuer Humangenetik Wien in Austria. KRAS Specificity 100 % Genes 5 %
Invitae Cardio-Facio-Cutaneous Syndrome Panel. By Invitae in United States. MAP2K2, SOS1, SHOC2, MAP2K1, KRAS, BRAF Specificity 17 % Genes 5 %
KRAS: KRAS gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KRAS Specificity 100 % Genes 5 %
Noonan syndrome 3: KRAS gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KRAS Specificity 100 % Genes 5 %
KRAS Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. KRAS Specificity 100 % Genes 5 %
Noonan Syndrome and Related Conditions Profile. By Integrated Genetics Westborough Integrated Genetics in United States. MAP2K2, SOS1, SHOC2, PTPN11, MAP2K1, KRAS, HRAS, BRAF, RAF1 Specificity 23 % Genes 10 %
Short Stature NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EP300, FGD1, NIPBL, SMC1A, SOS1, PTPN11, KRAS, DHCR7, CREBBP, RAF1 Specificity 20 % Genes 10 %
KRAS. By Fulgent Genetics Fulgent Genetics in United States. KRAS Specificity 100 % Genes 5 %
BREASTON-EXTENDED. By PentaCoreLab in Hungary. DIRAS3, ERBB2, RAD51, BARD1, BRIP1, RAD50, CHEK2, STK11, CDH1, PALB2, NBN, ATM, KRAS, TP53, BRCA2, BRCA1 Specificity 7 % Genes 5 %
KRAS Mutation by PCR. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. KRAS Specificity 100 % Genes 5 %
Focus::DLBCL&FL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2 , (...) View the complete list with 24 more genes Panel GTR000557917 complete gene list FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2, TNFAIP3, CARD11, PRKDC, CIITA, PIK3CD, FAS, IKZF1, MYD88, TET2, EP300, ARID1A, EZH2, NOTCH1, MTOR, KMT2D, BTK, CDKN2A, ATM, KRAS, CREBBP, BRAF, STAT3, TP53, PTEN Specificity 5 % Genes 10 %
Focus::Lymphoma™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1 , (...) View the complete list with 29 more genes Panel GTR000557919 complete gene list FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1, CD79B, CD79A, B2M, PLCG2, TNFAIP3, CARD11, NOTCH2, PRKDC, CIITA, PIK3CD, FAS, IKZF1, MYD88, TET2, EP300, ARID1A, EZH2, NOTCH1, MTOR, KMT2D, BTK, CDKN2A, ATM, KRAS, CREBBP, BRAF, STAT3, TP53, PTEN Specificity 5 % Genes 10 %
V-KI-RAS2 Kirsten rat sarcoma viral oncogene Homolog V-KI-RAS-2. By Bioarray in Spain. KRAS Specificity 100 % Genes 5 %
Lung and colon cancer. By Bioarray in Spain. KRAS Specificity 100 % Genes 5 %
Breast Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1 , (...) View the complete list with 22 more genes Panel GTR000553949 complete gene list RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MAP2K2, FGFR2, MAP2K1, KRAS, HRAS, BRAF, IDH2, RET, RB1, TP53, RUNX1, PTEN, BRCA2, BRCA1 Specificity 5 % Genes 10 %
Cardiofaciocutaneous Syndrome Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. MAP2K2, MAP2K1, KRAS, BRAF Specificity 25 % Genes 5 %
KRAS Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KRAS Specificity 100 % Genes 5 %
Circulo Lung. By Circulogene Theranostics in United States. KRAS Specificity 100 % Genes 5 %
LUNG CANCER, SQUAMOUS CELL. By Laboratorio de Genetica Clinica SL in Spain. KRAS Specificity 100 % Genes 5 %
CARDIOFACIOCUTANEOUS SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. MAP2K2, MAP2K1, KRAS, BRAF Specificity 25 % Genes 5 %
BLADDER CANCER. By Laboratorio de Genetica Clinica SL in Spain. KRAS Specificity 100 % Genes 5 %
Noonan Syndrome Type 3, Sequencing KRAS Gene. By Reference Laboratory Genetics in Spain. KRAS Specificity 100 % Genes 5 %
Familial Pancreatic Cancer , Panel Massive Sequencing (NGS) 16 Genes. By Reference Laboratory Genetics in Spain. MLH3, TGFBR2, SMAD4, CDKN2A, STK11, PALB2, KRAS, MEN1, TP53, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1 Specificity 7 % Genes 5 %
Cardiofaciocutaneous Syndrome , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. MAP2K2, SOS1, SHOC2, MAP2K1, KRAS, BRAF Specificity 17 % Genes 5 %
PTPN11 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. PTPN11 Specificity 100 % Genes 5 %
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories in United States. RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET , (...) View the complete list with 41 more genes Panel GTR000553691 complete gene list RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, CBL, PTPN11, TSHR, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, WT1, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 7 % Genes 20 %
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP , (...) View the complete list with 63 more genes Panel GTR000522577 complete gene list NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, SETBP1, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, TBL1XR1, SETD2, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, SYNE1, L1CAM, SCN1A, NSD1, NIPBL, TSC1, SMC1A, SMC3, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, TMLHE, ALDH5A1, SLC9A6, AMT, TUBA1A, STXBP1, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 3 % Genes 10 %
Dilated & Arrhythmogenic Cardiomyopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3 , (...) View the complete list with 31 more genes Panel GTR000558810 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, LAMA4, ACTC1, NEBL, CASQ2, TRDN, RYR2, PKP2, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 2 % Genes 5 %
LEOPARD syndrome 1. By Center for Human Genetics, Inc in United States. PTPN11 Specificity 100 % Genes 5 %
Noonan syndrome 1 (PTPN11). By Center for Human Genetics, Inc in United States. PTPN11 Specificity 100 % Genes 5 %
Noonan Syndrome, PTPN11 Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PTPN11 Specificity 100 % Genes 5 %
Autsim Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...) View the complete list with 87 more genes Panel GTR000528547 complete gene list NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SMARCB1, MAGEL2, SNRPN, RPL10, UBE2A, AFF2, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
CustomNext: Neuro. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560527 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Neurodevelopment-Expanded. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560603 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
HCMFirst reflex HCMNext. By Ambry Genetics in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP , (...) View the complete list with 7 more genes Panel GTR000560563 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7, PTPN11, GLA, FXN, RAF1, TTR Specificity 4 % Genes 5 %
IDNext. By Ambry Genetics in United States. KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...) View the complete list with 120 more genes Panel GTR000560575 complete gene list KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, NEXMIF, PURA, DNM1, HNRNPU, FLNA, PQBP1, DCX, DEPDC5, ALG13, MBD5, GRIN2A, CHD2, PNPO, HCN1, GRIN2B, FOLR1, STX1B, SCN2A, DYNC1H1, KIF1A, L1CAM, CACNA1A, PPT1, GPC3, NSD1, NIPBL, SMC1A, SMC3, SYNGAP1, RAD21, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, CREBBP, CHD7, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, SLC25A22, TUSC3, GATM, GAMT, MECP2, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
PTPN11. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PTPN11 Specificity 100 % Genes 5 %
PTPN11. Sequencing of the exons 7, 12 and 13. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PTPN11 Specificity 100 % Genes 5 %
PTPN11-Related Noonan Syndrome. By CGC Genetics in Portugal. PTPN11 Specificity 100 % Genes 5 %
PTPN11-Related LEOPARD syndrome. By CGC Genetics in Portugal. PTPN11 Specificity 100 % Genes 5 %
Noonan Syndrome (sequence analysis of PTPN11 gene). By CGC Genetics in Portugal. PTPN11 Specificity 100 % Genes 5 %
Leopard syndrome (frequent mutations on PTPN11 gene). By CGC Genetics in Portugal. PTPN11 Specificity 100 % Genes 5 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...) View the complete list with 186 more genes Panel GTR000553215 complete gene list CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HOXA4, HOXB6, BMP7, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, FGF10, NR5A1, SYCP3, RIPK4, FBXL4, DNAH1, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SEMA3E, SOX10, CLPP, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, EIF2B4, EIF2B2, EIF2B3, LMNA, FIG4, EIF2B5, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, EIF2B1, DHCR7, CREBBP, CHD7, CFTR, ARX, AR, AIRE, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, GALT, CYB5A, BCOR, HCCS, CYP11A1, DHCR24, RBBP8, EVC2, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE Specificity 1 % Genes 10 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...) View the complete list with 138 more genes Panel GTR000553216 complete gene list CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1, PDE4D, CUL7, TAC3, WDR11, FSHB, LHB, AMHR2, AMH, MAMLD1, FSHR, BMP15, PSMC3IP, WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, WNT5A, UBR1, EPG5, B3GLCT, BMP4, DHCR24, RBBP8, EVC2, EVC, CEP41, GATA4, EFNB1, SRD5A2, LHX3, LHX4, HSD17B3, FGF10, NR5A1, RIPK4, FBXL4, TP63, GLI3, PCNT, SOX9, POR, SOX3, WDR35, FAT4, MED12, MID1, SOX10, SALL1, ZEB2, SETBP1, OPHN1, ATRX, FLNA, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, LMNA, FIG4, PEX1, PROP1, HBA1, GPC3, CDKN1C, FGFR2, SRY, SOS1, PTPN11, PCSK1, LEPR, LEP, DHCR7, CREBBP, CHD7, ARX, AR, FGFR3, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, CYP11B1, TRIM32, TTC8, MKKS, ARL6, PITX2, HSD17B4, HNF1B, WT1, STAR, FOXL2, HFE Specificity 2 % Genes 10 %
PTPN11-Related LEOPARD Syndrome. By Bioscientia GmbH Center for Human Genetics in Germany. PTPN11 Specificity 100 % Genes 5 %
Leukemia, juvenile myelomonocytic. By Centogene AG - the Rare Disease Company in Germany. PTPN11 Specificity 100 % Genes 5 %
Single gene testing PTPN11. By CeGaT GmbH in Germany. PTPN11 Specificity 100 % Genes 5 %
PTPN11-Related Noonan Syndrome. By GGA - Galil Genetic Analysis in Israel. PTPN11 Specificity 100 % Genes 5 %
PTPN11-Related Noonan Syndrome. By MVZ Dortmund Dr. Eberhard & Partner in Germany. PTPN11 Specificity 100 % Genes 5 %
PTPN11-related Noonan Syndrome. By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile in Chile. PTPN11 Specificity 100 % Genes 5 %
PTPN11-related Noonan Syndrome. By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile in Chile. PTPN11 Specificity 100 % Genes 5 %
Noonan syndrome, PTPN11 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. PTPN11 Specificity 100 % Genes 5 %
Left Ventricular Non-Compactation Panel. By Health in Code in Spain. MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1 , (...) View the complete list with 16 more genes Panel GTR000521460 complete gene list MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1, HCN4, KCNH2, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, TTN, LMNA, PTPN11, DMD, MLYCD, TAZ, DNAJC19, DSP Specificity 3 % Genes 5 %
Aortic Valvular Diseases Panel. By Health in Code in Spain. ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1 , (...) View the complete list with 10 more genes Panel GTR000521466 complete gene list ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1, HRAS, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A2, COL1A1, GAA Specificity 4 % Genes 5 %
Hypertrophic Cardiomyopathy Short Panel. By Health in Code in Spain. MYL3, MYL2, TNNT2, TPM1, PRKAG2, TNNI3, TNNC1, LAMP2, ACTA1, MYBPC3, FLNC, MYH7, DES, PTPN11, GLA, TTR Specificity 7 % Genes 5 %
Non-compaction cardiomyopathy. By Health in Code in Spain. NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1 , (...) View the complete list with 17 more genes Panel GTR000530653 complete gene list NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1, HCN4, KCNH2, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, TTN, LMNA, PTPN11, DMD, MLYCD, TAZ, DNAJC19, DSP Specificity 3 % Genes 5 %
Hypertrophic cardiomyopathy panel. By Health in Code in Spain. MYL3, MYL2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, FLNC, MYH7, DES, PTPN11, GLA, TTR Specificity 6 % Genes 5 %
Aortic diseases Panel. By Health in Code in Spain. GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...) View the complete list with 15 more genes Panel GTR000530671 complete gene list GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9, MED12, FLNA, SMAD4, PTPN11, PLOD1, HRAS, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A2, COL1A1, GAA Specificity 3 % Genes 5 %
Metachondromatosis. By Praxis fuer Humangenetik Wien in Austria. PTPN11 Specificity 100 % Genes 5 %
LEOPARD SYNDROME. By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute in Spain. PTPN11, RAF1 Specificity 50 % Genes 5 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1 , (...) View the complete list with 39 more genes Panel GTR000558536 complete gene list NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, FOLR1, L1CAM, SCN1A, NSD1, NIPBL, SMC1A, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
Skeletal Dysplasias NGS panel. By Fulgent Genetics Fulgent Genetics in United States. SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...) View the complete list with 141 more genes Panel GTR000515853 complete gene list SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4, MATN3, GDF5, PTHLH, HPGD, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, NKX3-2, CHST3, HOXD13, GPC6, MMP2, WISP3, DMP1, SLC34A3, CLCN5, ENPP1, TBCE, OBSL1, CUL7, LRP4, NEK1, ICK, WNT7A, TBX15, ROR2, ESCO2, DYNC2H1, WNT5A, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, TREM2, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, KIF7, RPGRIP1L, THPO, GORAB, SERPINH1, GNAS, TBX5, SALL4, FGF10, ZMPSTE24, PITX1, BMPR1B, SH3PXD2B, CDH3, IFT140, TP63, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, CHSY1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, FGFR1, LMNA, TRPV4, TMEM216, SLC26A2, PRKAR1A, CDKN1C, NIPBL, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, MKS1, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, PLOD2, CRTAP, P3H1, SLC39A13, SLC25A12, SP7, FBN1, SHH, CEP290, TMEM67, ATP6V0A2, CC2D2A, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 5 %
PTPN11. By Fulgent Genetics Fulgent Genetics in United States. PTPN11 Specificity 100 % Genes 5 %
Leopard syndrome type 1. By Bioarray in Spain. PTPN11 Specificity 100 % Genes 5 %
PTPN11 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. PTPN11 Specificity 100 % Genes 5 %
Wolff-Parkinson White Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7 , (...) View the complete list with 5 more genes Panel GTR000556587 complete gene list MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7, CAV3, PTPN11, GLA, RAF1, TTR Specificity 4 % Genes 5 %
Cardiomyopathy, familial hypertrophic Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7 , (...) View the complete list with 5 more genes Panel GTR000556594 complete gene list MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7, CAV3, PTPN11, GLA, RAF1, TTR Specificity 4 % Genes 5 %
PTPN11 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. PTPN11 Specificity 100 % Genes 5 %
LEUKEMIA, JUVENILE MYELOMONOCYTIC. By Laboratorio de Genetica Clinica SL in Spain. PTPN11 Specificity 100 % Genes 5 %
LEOPARD SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. PTPN11, BRAF, RAF1 Specificity 34 % Genes 5 %
Noonan Syndrome Type 1 , Sequencing PTPN11 Gene. By Reference Laboratory Genetics in Spain. PTPN11 Specificity 100 % Genes 5 %
LEOPARD Syndrome, Sequencing PTPN11 Gene. By Reference Laboratory Genetics in Spain. PTPN11 Specificity 100 % Genes 5 %
LEOPARD Syndrome, Sequencing Exons (7,12,13) PTPN11 Gene. By Reference Laboratory Genetics in Spain. PTPN11 Specificity 100 % Genes 5 %
Noonan Syndrome Type 1 , Sequencing Exons (3,7,8,13) PTPN11 Gene. By Reference Laboratory Genetics in Spain. PTPN11 Specificity 100 % Genes 5 %
Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes. By Reference Laboratory Genetics in Spain. CALR3, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, RYR2 , (...) View the complete list with 17 more genes Panel GTR000559544 complete gene list CALR3, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, RYR2, ANK2, LAMP2, TCAP, MYBPC3, LDB3, FLNC, MYH7, DES, TTN, CAV3, PTPN11, GLA, FXN, SLC25A4, GAA, AGL, TTR Specificity 3 % Genes 5 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes. By Reference Laboratory Genetics in Spain. BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...) View the complete list with 57 more genes Panel GTR000559901 complete gene list BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes. By Reference Laboratory Genetics in Spain. ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...) View the complete list with 75 more genes Panel GTR000559968 complete gene list ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, LAMA4, TGFB3, MYLK2, ACTC1, KCNA5, TP63, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, NOTCH1, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, HCN1, SCN1B, KCNH2, CACNA1H, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PHOX2B, PTPN11, DMPK, DMD, TAZ, PHOX2A, DNAJC19, TSFM, SLC25A3, DNM1L, CRYAB, DSP, PITX2, EYA4, RET, TTR Specificity 2 % Genes 5 %
PTPN11 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. PTPN11 Specificity 100 % Genes 5 %
PTPN11 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. PTPN11 Specificity 100 % Genes 5 %
Hereditary Leukemia/Lymphoma Panel. By Baylor Miraca Genetics Laboratories in United States. PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, PALB2, ATM, CBL, PTPN11, TP53, RUNX1, BRCA2 Specificity 31 % Genes 20 %
Noonan Syndrome (PTPN11) DNA Sequencing Test. By Athena Diagnostics Inc in United States. PTPN11 Specificity 100 % Genes 5 %
Noonan syndrome. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PTPN11 Specificity 100 % Genes 5 %
Hypertrophic Cardiomyopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, PDLIM3, PKP2, LAMP2, MYBPC3, MYH7, TTN , (...) View the complete list with 4 more genes Panel GTR000558811 complete gene list MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, PDLIM3, PKP2, LAMP2, MYBPC3, MYH7, TTN, PTPN11, GLA, RAF1, TTR Specificity 5 % Genes 5 %
Hypertrophic Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. OBSCN, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1 , (...) View the complete list with 16 more genes Panel GTR000528546 complete gene list OBSCN, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, LAMP2, TCAP, MYBPC3, LDB3, MYH7, TTN, CAV3, PTPN11, GLA, FXN, SURF1, COX15, SCO2, RAF1, GAA, TTR Specificity 3 % Genes 5 %
PTPN11-Related Noonan syndrome. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. PTPN11 Specificity 100 % Genes 5 %
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...) View the complete list with 52 more genes Panel GTR000528876 complete gene list WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH, IL17RD, HOXA13, FREM2, ESCO2, GRIP1, DYNC2H1, CYP19A1, AKR1C2, UBR1, TCTN3, B3GLCT, BMP4, DHCR24, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SCARF2, RIPK4, SOX9, POR, FAT4, SALL1, SETBP1, OPHN1, ATRX, ANOS1, KISS1R, LHCGR, NR0B1, LMNA, FIG4, CDKN1C, SRY, PTPN11, DHCR7, CREBBP, CHD7, ARX, AR, CYP17A1, MKS1, CYB5A, BCOR, HCCS, CYP11A1, HSD3B2, CYP11B1, MKKS, WT1, STAR Specificity 3 % Genes 10 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...) View the complete list with 41 more genes Panel GTR000531740 complete gene list PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2, EVC, EFNB1, SRD5A2, FGF10, NR5A1, FBXL4, TP63, GLI3, PCNT, WDR35, FAT4, MED12, MID1, SALL1, ZEB2, SETBP1, ATRX, FLNA, FGFR1, FIG4, PEX1, HBA1, GPC3, CDKN1C, FGFR2, PTPN11, DHCR7, CREBBP, ARX, AR, FGFR3, SOX2, BCOR, HCCS, CYP11A1, HSD3B2, TMEM70, MKKS, PITX2, HNF1B, WT1 Specificity 4 % Genes 10 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 33 more genes Panel GTR000509102 complete gene list CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, ACTC1, NEBL, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 2 % Genes 5 %
HCM Panel (20 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, MYH7, PTPN11, GLA, RAF1, TTR Specificity 5 % Genes 5 %
Pan Cardiomyopathy Panel (62 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 41 more genes Panel GTR000509149 complete gene list CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 2 % Genes 5 %
Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. PTPN11 Specificity 100 % Genes 5 %
CardioNext with TTN. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 65 more genes Panel GTR000560510 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, RAF1, CRYAB, DSP, JAG1, EYA4, TTR Specificity 2 % Genes 5 %
CMNext with TTN. By Ambry Genetics in United States. TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...) View the complete list with 35 more genes Panel GTR000560519 complete gene list TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, TGFB3, RAF1, CRYAB, DSP, EYA4, TTR Specificity 2 % Genes 5 %
CustomNext: Cardio. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 86 more genes Panel GTR000560528 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, SMAD4, PTPN11, PLOD1, GLA, DMD, COL5A2, COL5A1, FXN, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, JAG1, EYA4, COL3A1, TTR Specificity 1 % Genes 5 %
HCMNext. By Ambry Genetics in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP , (...) View the complete list with 7 more genes Panel GTR000560562 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7, PTPN11, GLA, FXN, RAF1, TTR Specificity 4 % Genes 5 %
PTPN11. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PTPN11 Specificity 100 % Genes 5 %
PTPN11. Sequencing of the exons 2, 3, 8, 9 and 13. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PTPN11 Specificity 100 % Genes 5 %
PTPN11-Related Noonan Syndrome. By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine. in Spain. PTPN11 Specificity 100 % Genes 5 %
Noonan Syndrome and LEOPARD Syndrome - PTPN11 Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PTPN11 Specificity 100 % Genes 5 %
PTPN11-Related Noonan syndrome. By ChildLab Molecular Genetics Laboratory Nationwide Children's Hospital in United States. PTPN11 Specificity 100 % Genes 5 %
LEOPARD syndrome (sequence analysis of PTPN11 gene). By CGC Genetics in Portugal. PTPN11 Specificity 100 % Genes 5 %
LEOPARD syndrome (sequence analysis of PTPN11 gene). By CGC Genetics in Portugal. PTPN11 Specificity 100 % Genes 5 %
PTPN11-Related Disorders via PTPN11 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PTPN11 Specificity 100 % Genes 5 %
Noonan syndrome. By Institute of Human Genetics Cologne University in Germany. RIT1, PTPN11 Specificity 50 % Genes 5 %
PTPN11-Related Noonan Syndrome. By Bioscientia GmbH Center for Human Genetics in Germany. PTPN11 Specificity 100 % Genes 5 %
LEOPARD syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. PTPN11 Specificity 100 % Genes 5 %
Noonan syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. SOS1, PTPN11 Specificity 50 % Genes 5 %
Noonan syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. PTPN11 Specificity 100 % Genes 5 %
LEOPARD syndrome. By bio.logis Center for Human Genetics Diagnosticum in Germany. PTPN11, BRAF, RAF1 Specificity 34 % Genes 5 %
PTPN11-Related LEOPARD Syndrome. By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece. PTPN11 Specificity 100 % Genes 5 %
Autism Spectrum Disorders. By Asper Biogene Asper Biogene LLC in Estonia. EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B , (...) View the complete list with 32 more genes Panel GTR000560258 complete gene list EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, CNTNAP2, ANKRD11, NRXN1, SETD2, RELN, PQBP1, SCN2A, SCN1A, NSD1, NIPBL, TSC1, SMC3, RAD21, TSC2, HDAC8, RAI1, PTPN11, PCDH19, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC6A8, MECP2, NHS, HPRT1, ADSL, UBE3A Specificity 2 % Genes 5 %
PTPN11 gene sequencing. By Health in Code in Spain. PTPN11 Specificity 100 % Genes 5 %
Dilated Cardiomyopathy Panel. By Health in Code in Spain. FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...) View the complete list with 61 more genes Panel GTR000521471 complete gene list FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, RYR2, PKP2, ABCC9, KCNJ8, LAMP2, SCN5A, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, PTPN11, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, DNAJC19, RAF1, CRYAB, DSP, GLB1, EYA4, PSEN1, GAA, TTR, HFE Specificity 2 % Genes 5 %
PTPN11-Related Noonan Syndrome. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. PTPN11 Specificity 100 % Genes 5 %
LEOPARD syndrome 1. By Praxis fuer Humangenetik Wien in Austria. PTPN11 Specificity 100 % Genes 5 %
Noonan syndrome 1. By Praxis fuer Humangenetik Wien in Austria. PTPN11 Specificity 100 % Genes 5 %
LEOPARD syndrome 1. By MedGene in Slovakia. PTPN11 Specificity 100 % Genes 5 %
Metachondromatosis. By MedGene in Slovakia. PTPN11 Specificity 100 % Genes 5 %
Noonan syndrome 1. By MedGene in Slovakia. PTPN11 Specificity 100 % Genes 5 %
Invitae Noonan Syndrome with Multiple Lentigines Panel. By Invitae in United States. PTPN11, BRAF, RAF1 Specificity 34 % Genes 5 %
LEOPARD syndrome: PTPN11 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PTPN11 Specificity 100 % Genes 5 %
LEOPARD syndrome: PTPN11 gene sequence analysis (exons 7, 12, 13). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PTPN11 Specificity 100 % Genes 5 %
Noonan syndrome: PTPN11 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PTPN11 Specificity 100 % Genes 5 %
Noonan Syndrome: PTPN11 Full Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PTPN11 Specificity 100 % Genes 5 %
Noonan Syndrome: PTPN11 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PTPN11 Specificity 100 % Genes 5 %
Autism Spectrum Disorders: Tier 2 Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK , (...) View the complete list with 42 more genes Panel GTR000512587 complete gene list NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, FOLR1, L1CAM, SCN1A, NSD1, NIPBL, SMC1A, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, ALDH5A1, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
Disproportionate Short Stature: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...) View the complete list with 65 more genes Panel GTR000512595 complete gene list SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2, CHST3, GPC6, LFNG, HES7, MESP2, TBCE, OBSL1, CUL7, ARSE, NEK1, ICK, ROR2, DYNC2H1, WNT5A, TCTN3, SMARCAL1, EXT1, EXT2, DHCR24, EIF2AK3, IFT122, B3GALT6, EVC2, EVC, IFT80, BMPR1B, SH3PXD2B, IFT140, GLI3, CHST14, DYM, PCNT, SOX9, COMP, EBP, PTH1R, CANT1, WDR35, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, HSPG2, ANO5, SHOX, FGFR1, TRPV4, SLC26A2, PRKAR1A, CDKN1C, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, FAM20C, CTSK, AGPS, SLC39A13, FBN1, COL1A1, COL2A1, ANKH Specificity 2 % Genes 5 %
Skeletal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...) View the complete list with 143 more genes Panel GTR000512649 complete gene list SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4, MATN3, GDF5, PTHLH, HPGD, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, GALNT3, ARHGAP31, ACP5, NKX3-2, CHST3, HOXD13, GPC6, MMP2, WISP3, DMP1, SLC34A3, CLCN5, ENPP1, TBCE, OBSL1, CUL7, LRP4, NEK1, ICK, WNT7A, TBX15, ROR2, ESCO2, DYNC2H1, WNT5A, TCTN3, NOTCH2, SMARCAL1, MGP, EXT1, EXT2, TBXAS1, FERMT3, DHCR24, EIF2AK3, GREM1, TREM2, IFT122, B3GALT6, MYCN, EVC2, EVC, IFT80, KIF7, RPGRIP1L, THPO, GORAB, SERPINH1, GNAS, TBX5, SALL4, FGF10, ZMPSTE24, PITX1, BMPR1B, SH3PXD2B, CDH3, IFT140, TP63, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, CHSY1, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, PIGV, FLNA, HSPG2, ANO5, FGF23, PHEX, CASR, SHOX, FGFR1, LMNA, TRPV4, TMEM216, SLC26A2, PRKAR1A, CDKN1C, NIPBL, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, MKS1, TNFRSF11B, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, PLOD2, CRTAP, P3H1, SLC39A13, SLC25A12, SP7, FBN1, SHH, CEP290, TMEM67, ATP6V0A2, CC2D2A, CLCN7, PYCR1, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A2, COL1A1, COL2A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL, RECQL4 Specificity 1 % Genes 5 %
Disproportionate Short Stature: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...) View the complete list with 56 more genes Panel GTR000558820 complete gene list SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE, OBSL1, CUL7, NEK1, ICK, ROR2, DYNC2H1, WNT5A, TCTN3, SMARCAL1, EXT1, EXT2, DHCR24, EIF2AK3, IFT122, B3GALT6, EVC2, EVC, IFT80, BMPR1B, SH3PXD2B, IFT140, GLI3, CHST14, DYM, PCNT, SOX9, COMP, PTH1R, CANT1, WDR35, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, FLNA, HSPG2, ANO5, SHOX, FGFR1, TRPV4, SLC26A2, PRKAR1A, CDKN1C, FGFR2, RUNX2, PTPN11, COL10A1, FGFR3, FAM20C, CTSK, SLC39A13, FBN1, COL1A1, COL2A1, ANKH Specificity 2 % Genes 5 %
Pan-Cardio NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...) View the complete list with 81 more genes Panel GTR000506437 complete gene list MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, PTPN11, GLA, DMD, DOLK, SDHA, FXN, COX15, TAZ, NDUFAF1, MRPL3, RAF1, CRYAB, DSP, JAG1, EYA4, GAA, TTR Specificity 1 % Genes 5 %
Autism NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...) View the complete list with 80 more genes Panel GTR000509342 complete gene list AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Exostosis and Related Disorders Panel. By Blueprint Genetics in Finland. EXT1, EXT2, PTPN11 Specificity 34 % Genes 5 %
Noonan syndrome type 1. By Bioarray in Spain. PTPN11 Specificity 100 % Genes 5 %
Noonan Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. PTPN11, RAF1 Specificity 50 % Genes 5 %
LEOPARD Syndrome, Panel Massive Sequencing (NGS) PTPN11, RAF1, BRAF Genes. By Reference Laboratory Genetics in Spain. PTPN11, BRAF, RAF1 Specificity 34 % Genes 5 %
Erythrocytes, Anemia Panel. By CeGaT GmbH in Germany. EGLN1, EPAS1, EPOR, HBD, LPIN2, C15orf41, EPB42, ANK1, SPTA1, SPTB, RPS7, SH2B3, SEC23B, CDAN1, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26 , (...) View the complete list with 13 more genes Panel GTR000528900 complete gene list EGLN1, EPAS1, EPOR, HBD, LPIN2, C15orf41, EPB42, ANK1, SPTA1, SPTB, RPS7, SH2B3, SEC23B, CDAN1, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26, KLF1, KIF23, HBA2, G6PD, HBA1, RPS19, GIF, CUBN, RPL35A, COX4I2, AMN, HBB, HFE Specificity 4 % Genes 5 %
Erythrocytosis, somatic (sequence analysis of SH2B3 gene). By CGC Genetics in Portugal. SH2B3 Specificity 100 % Genes 5 %
Erythrocytosis, familial type 1. By Centogene AG - the Rare Disease Company in Germany. SH2B3 Specificity 100 % Genes 5 %
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia. By BLOODGENETICS BLOODGENETICS in Spain. BPGM, EGLN1, EPAS1, EPOR, JAK2, SH2B3, VHL Specificity 15 % Genes 5 %
Myelofibrosis NGS panel. By Fulgent Genetics Fulgent Genetics in United States. JAK2, CALR, SH2B3, MPL Specificity 25 % Genes 5 %
SH2B3. By Fulgent Genetics Fulgent Genetics in United States. SH2B3 Specificity 100 % Genes 5 %
Somatic Myelofibrosis , Panel Massive Sequencing (NGS) 4 Genes. By Reference Laboratory Genetics in Spain. JAK2, CALR, SH2B3, MPL Specificity 25 % Genes 5 %
NGS Vascular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. FLT4, TEK, PTPN14, KIF11, STAMBP, VEGFC, GLMN, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FOXC2, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, GJC2 , (...) View the complete list with 1 more genes Panel GTR000552465 complete gene list FLT4, TEK, PTPN14, KIF11, STAMBP, VEGFC, GLMN, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FOXC2, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, GJC2, PTEN Specificity 5 % Genes 5 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, FANCM , (...) View the complete list with 39 more genes Panel GTR000501114 complete gene list CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, TERT, TERC, LYST, DKC1, FANCB, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26, GATA1, VPS13B, WAS, RTEL1, MPL, RAD51C, SBDS, GATA2, BRIP1, PALB2, TINF2, RPS19, RMRP, FANCC, TAZ, AP3B1, HAX1, RPL35A, SLC37A4, BRCA2 Specificity 4 % Genes 10 %
Inherited Neutropenia panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1 , (...) View the complete list with 1 more genes Panel GTR000512562 complete gene list WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1, SLC37A4 Specificity 10 % Genes 10 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCI, FANCL, FANCM, SLX4, FANCE , (...) View the complete list with 35 more genes Panel GTR000519419 complete gene list CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, TERT, TERC, LYST, DKC1, FANCB, RPS24, RPL5, RPL11, RPS10, RPS26, GATA1, VPS13B, WAS, RTEL1, MPL, RAD51C, GATA2, BRIP1, PALB2, TINF2, RPS19, RMRP, FANCC, TAZ, AP3B1, HAX1, RPL35A, SLC37A4, BRCA2 Specificity 4 % Genes 10 %
Inherited Neutropenia Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, GATA2, TAZ, AP3B1, HAX1, SLC37A4 Specificity 10 % Genes 10 %
GATA2 Deleton/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. GATA2 Specificity 100 % Genes 5 %
Inherited Bone Marrow Failure Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, USB1, RPS7, SRP72, ERCC4, XRCC2 , (...) View the complete list with 41 more genes Panel GTR000520395 complete gene list SAMD9L, SAMD9, NAF1, POT1, DNAJC21, ACD, CXCR4, GFI1, RBM8A, RPL26, VPS45, G6PC3, RPL15, ELANE, CSF3R, USB1, RPS7, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, CTC1, PARN, TERT, TERC, DKC1, FANCB, RPS24, RPL5, RPL11, RPS10, RPS26, GATA1, SBF2, WAS, RTEL1, MPL, RAD51C, SBDS, GATA2, BRIP1, PALB2, TINF2, RPS19, FANCC, HAX1, RPL35A, ALAS2, RUNX1, BRCA2 Specificity 4 % Genes 10 %
Thrombocytopenia Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RUNX1T1, SLFN14, CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8 , (...) View the complete list with 23 more genes Panel GTR000531736 complete gene list GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RUNX1T1, SLFN14, CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46, CFHR5, CFH, CFI, CFB, VWF, TERT, TERC, GATA1, MYH9, FLNA, WAS, MPL, GATA2, ANKRD26, CYCS Specificity 3 % Genes 5 %
Thrombocytopenia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46 , (...) View the complete list with 23 more genes Panel GTR000558961 complete gene list CFHR4, SRC, RBM8A, GP1BB, ETV6, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46, CFHR5, CFH, CFI, CFB, VWF, TERT, TERC, GATA1, MYH9, FLNA, WAS, MPL, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, GATA2, ANKRD26, CYCS, RUNX1 Specificity 5 % Genes 10 %
Neonatal Respiratory Distress Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1 Specificity 7 % Genes 5 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1 Specificity 7 % Genes 5 %
Neonatal Respiratory Distress Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1 Specificity 7 % Genes 5 %
Comprehensive Pulmonary-Vascular Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 44 more genes Panel GTR000553479 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 5 %
Humoral dysfunction Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...) View the complete list with 4 more genes Panel GTR000553491 complete gene list IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2, IKBKG, STAT3, UNG, STAT1 Specificity 5 % Genes 5 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 44 more genes Panel GTR000553502 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 5 %
GATA2 deficiency (sequence analysis of GATA2 gene). By CGC Genetics in Portugal. GATA2 Specificity 100 % Genes 5 %
Hereditary neutropenia (NGS panel for 22 genes). By CGC Genetics in Portugal. JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1 , (...) View the complete list with 2 more genes Panel GTR000525717 complete gene list JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1, SLC37A4 Specificity 10 % Genes 10 %
Lymphedema Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GJA1, FLT4, PTPN14, KIF11, VEGFC, CCBE1, SOX18, FAT4, PIEZO1, FOXC2, GATA2, GJC2 Specificity 9 % Genes 5 %
Severe Congenital Neutropenia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SMARCD2, WDR1, DNAJC21, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS , (...) View the complete list with 5 more genes Panel GTR000521217 complete gene list SMARCD2, WDR1, DNAJC21, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1, SLC37A4 Specificity 8 % Genes 10 %
Vascular malformations Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN Specificity 6 % Genes 5 %
Vascular malformations NGS panel. By Connective Tissue Gene Tests in United States. ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN Specificity 6 % Genes 5 %
GATA2 gene. By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States. GATA2 Specificity 100 % Genes 5 %
Single gene testing GATA2. By CeGaT GmbH in Germany. GATA2 Specificity 100 % Genes 5 %
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel. By Invitae in United States. IRF8, STAT2, ACP5, ISG15, IL12B, TYK2, IL12RB1, IRAK4, IFNGR2, IFNGR1, MYD88, ADAR, SAMHD1, CYBB, GATA2, STAT1 Specificity 7 % Genes 5 %
Invitae Primary Immunodeficiency Panel. By Invitae in United States. IRF7, RORC, DCLRE1B, DOCK2, MAP3K14, NFAT5, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, FPR1, SP110, TNFSF12, IKBKB, LCK, CTPS1, ZBTB24, ADAM17, BCL10 , (...) View the complete list with 187 more genes Panel GTR000553783 complete gene list IRF7, RORC, DCLRE1B, DOCK2, MAP3K14, NFAT5, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, FPR1, SP110, TNFSF12, IKBKB, LCK, CTPS1, ZBTB24, ADAM17, BCL10, IRF8, CD247, CD8A, ITCH, STAT2, CORO1A, CD3G, IL17RA, TRAF3IP2, MALT1, IL21R, IL21, COPA, CEBPE, TMC8, TMC6, ITGB2, CD79B, IGLL1, CD79A, BLNK, B2M, PLCG2, RBCK1, ACP5, IL10, IL1RN, CARD14, IL36RN, SPINK5, TRNT1, CLPB, DNMT3B, IL2RA, CARD11, TMEM173, NLRP12, TICAM1, TRAF3, UNC93B1, PGM3, PSTPIP1, PRKCD, ISG15, IL12B, ADA2, TYK2, TNFRSF13C, PRKDC, IL10RB, ICOS, CR2, CARD9, ACD, TPP2, PIK3R1, TTC7A, SMARCAL1, NLRC4, JAGN1, IL17F, IL10RA, EPG5, CTLA4, NFKB2, TNFRSF1A, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, WIPF1, CD27, FADD, NFKBIA, LRBA, IRAK4, PIK3CD, LPIN2, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ITK, STXBP2, CASP10, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, POLE, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, IFNGR2, IFNGR1, CD40LG, AICDA, TNFRSF13B, CSF3R, MYD88, STIM1, RAB27A, FERMT3, SLC29A3, NOD2, NOP10, NHP2, CTC1, SH3BP2, JAK3, NCF4, NCF2, SH2D1A, MEFV, ADAR, IFIH1, PSMB8, CSF2RA, DOCK8, PARN, TERT, TERC, TBK1, LYST, BLOC1S6, CTSC, DKC1, MAGT1, FOXP3, MVK, SEMA3E, NLRP3, ACTB, VPS13B, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, BTK, WAS, RTEL1, SLC7A7, DCLRE1C, CYBB, PRF1, GATA2, NBN, ATM, TINF2, RMRP, CHD7, AIRE, PNP, IL2RG, MOGS, ADA, STAT3, CYBA, SLC35C1, AK2, TCN2, TAZ, TAP1, UNG, AP3B1, HAX1, TLR3, CASP8, SLC37A4, STAT1, PMS2 Specificity 2 % Genes 15 %
Congenital Neutropenia Panel. By Blueprint Genetics in Finland. MRTFA, GINS1, SMARCD2, WDR1, CLPB, PGM3, JAGN1, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, IFNGR2, CSF3R, SRP72, CSF2RA, LYST, CTSC, ACTB , (...) View the complete list with 6 more genes Panel GTR000552622 complete gene list MRTFA, GINS1, SMARCD2, WDR1, CLPB, PGM3, JAGN1, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, IFNGR2, CSF3R, SRP72, CSF2RA, LYST, CTSC, ACTB, VPS13B, WAS, SBDS, GATA2, HAX1, SLC37A4 Specificity 8 % Genes 10 %
Lymphatic Malformations and Related Disorders Panel. By Blueprint Genetics in Finland. PIK3CA, FLT4, KIF11, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, GATA2, GJC2 Specificity 10 % Genes 5 %
Hereditary Cancer Comprehensive Panel. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...) View the complete list with 53 more genes Panel GTR000551448 complete gene list TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA, BAP1, XRCC2, PRSS1, MYH8, MYH3, MYH6, TERT, TERC, CTNNA1, MYH11, ATR, MYH9, MYH14, MYH2, MYH7, NTRK1, RAD51D, BARD1, RAD51C, CEBPA, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, MEN1, SDHB, SDHC, RET, WT1, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 3 % Genes 10 %
Inherited Bone Marrow Failure Panel. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. TERF1, TERF2, DDX41, POT1, TERF2IP, ACD, GFI1, RPL26, G6PC3, RPL15, ELANE, CSF3R, ETV6, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI , (...) View the complete list with 38 more genes Panel GTR000551316 complete gene list TERF1, TERF2, DDX41, POT1, TERF2IP, ACD, GFI1, RPL26, G6PC3, RPL15, ELANE, CSF3R, ETV6, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, CTC1, TERT, TERC, DKC1, FANCB, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26, GATA1, WAS, RTEL1, MPL, RAD51C, CEBPA, SBDS, GATA2, BRIP1, PALB2, TINF2, RPS19, FANCC, HAX1, RPL35A, RUNX1, BRCA2 Specificity 4 % Genes 10 %
MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS ( MonoMAC SYNDROME ). By Laboratorio de Genetica Clinica SL in Spain. GATA2 Specificity 100 % Genes 5 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes. By Reference Laboratory Genetics in Spain. PDCD1, IRF4, CXCL12, TNFRSF4, IKBKB, IL21R, IL21, NFKB1, IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19 , (...) View the complete list with 21 more genes Panel GTR000559530 complete gene list PDCD1, IRF4, CXCL12, TNFRSF4, IKBKB, IL21R, IL21, NFKB1, IGHM, CD79B, IGLL1, CD79A, BLNK, LRRC8A, MS4A1, TNFRSF13C, ICOS, CD81, CR2, CD19, PIK3R1, IL17F, CTLA4, NFKBIA, PIK3CD, CXCR4, AKT1, RAG1, RAG2, CD40LG, CD40, AICDA, TNFRSF13B, SH2D1A, BTK, DCLRE1C, GATA2, IKBKG, STAT3, TGFB1, STAT1 Specificity 3 % Genes 5 %
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics in Spain. WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, G6PC3, ELANE, CSF3R, RAB27A, USB1, LYST, GATA1, VPS13B, WAS, SBDS, GATA2, TAZ, AP3B1, HAX1, SLC37A4 Specificity 10 % Genes 10 %
GATA2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. GATA2 Specificity 100 % Genes 5 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL). By Genetic Services Laboratory University of Chicago in United States. DDX41, SAMD9L, SAMD9, ETV6, IKZF1, SRP72, TERT, TERC, RTEL1, CEBPA, PAX5, GATA2, ANKRD26, TP53, RUNX1 Specificity 14 % Genes 10 %
GATA2 gene screen test. By Genetic Pathology SA Pathology in Australia. GATA2 Specificity 100 % Genes 5 %
GATA2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GATA2 Specificity 100 % Genes 5 %
GATA2 sequencing. By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada. GATA2 Specificity 100 % Genes 5 %
Humoral dysfunction Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...) View the complete list with 4 more genes Panel GTR000553465 complete gene list IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2, IKBKG, STAT3, UNG, STAT1 Specificity 5 % Genes 5 %
Humoral dysfunction Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...) View the complete list with 4 more genes Panel GTR000553468 complete gene list IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2, IKBKG, STAT3, UNG, STAT1 Specificity 5 % Genes 5 %
Comprehensive Pulmonary-Vascular Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...) View the complete list with 45 more genes Panel GTR000553478 complete gene list HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, CSF2RB, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, GDF2, CCNO, CCDC151, RSPH3, GAS8, TERT, MCIDAS, DNAH1, DNAH8, BMPR1B, ACVRL1, TERC, MARS, DKC1, RASA1, OFD1, FLNA, SLC7A7, ENG, GATA2, SMAD4, FOXF1, CFTR, CCDC39, RPGR, JAG1, INVS Specificity 2 % Genes 5 %
Immunodeficiency 21 (sequence analysis of GATA2 gene). By CGC Genetics in Portugal. GATA2 Specificity 100 % Genes 5 %
Immunodeficiency 21 (sequence analysis of GATA2 gene). By CGC Genetics in Portugal. GATA2 Specificity 100 % Genes 5 %
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DDX41, SAMD9L, ETV6, SRP72, TERT, TERC, CEBPA, GATA2, ANKRD26, TP53, RUNX1 Specificity 19 % Genes 10 %
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via GATA2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GATA2 Specificity 100 % Genes 5 %
Vascular malformations Comprehensive panel. By Connective Tissue Gene Tests in United States. ELMO2, EIF2AK4, TEK, GLMN, BMPR2, SMAD9, CAV1, KCNK3, GDF2, ACVRL1, RASA1, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, FOXF1, PTEN Specificity 6 % Genes 5 %
Immunodeficiency type 21. By Centogene AG - the Rare Disease Company in Germany. GATA2 Specificity 100 % Genes 5 %
Emberger syndrome. By Centogene AG - the Rare Disease Company in Germany. GATA2 Specificity 100 % Genes 5 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel. By CeGaT GmbH in Germany. ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8 , (...) View the complete list with 12 more genes Panel GTR000522445 complete gene list ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8, TFAP2A, GATA3, SIX1, SIX5, GATA2, PAX2, NPHP3, FOXC1, RET, HNF1B, WT1, EYA1 Specificity 4 % Genes 5 %
Vascular and lymphatic disorders Panel. By CeGaT GmbH in Germany. SERPING1, FLT4, KIF11, VEGFC, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FAT4, FOXC2, TREX1, PDCD10, CCM2, KRIT1, ENG, GATA2, GJC2 Specificity 6 % Genes 5 %
Defects of phagocytosis Panel. By CeGaT GmbH in Germany. FPR1, FCGR3B, MPO, ACKR1, IRF8, CEBPE, ITGB2, NCF1, ISG15, IL12B, JAGN1, IL12RB1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE , (...) View the complete list with 39 more genes Panel GTR000528902 complete gene list FPR1, FCGR3B, MPO, ACKR1, IRF8, CEBPE, ITGB2, NCF1, ISG15, IL12B, JAGN1, IL12RB1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, IFNGR2, IFNGR1, CSF3R, MLPH, RAB27A, MYO5A, FERMT3, SLC46A1, USB1, NCF4, NCF2, CSF2RA, TERT, CTSC, GATA1, ACTB, VPS13B, DNM2, WAS, CYBB, SBDS, GATA2, CYBA, TCIRG1, SLC35C1, TCN2, TAZ, AP3B1, HAX1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, SLC37A4, STAT1, HFE Specificity 4 % Genes 10 %
Invitae GATA2 Deficiency Test. By Invitae in United States. GATA2 Specificity 100 % Genes 5 %
Invitae Bone Marrow Failure Syndromes Panel. By Invitae in United States. RPL26, ELANE, RPS7, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, CTC1, TERT, TERC, DKC1 , (...) View the complete list with 19 more genes Panel GTR000551708 complete gene list RPL26, ELANE, RPS7, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, CTC1, TERT, TERC, DKC1, FANCB, RPS24, RPL5, RPL11, RPS10, RPS26, GATA1, WAS, MPL, RAD51C, GATA2, BRIP1, PALB2, TINF2, RPS19, FANCC, RPL35A, RUNX1, BRCA2 Specificity 6 % Genes 10 %
GATA2-related disorders (GATA2 gene sequence analysis). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GATA2 Specificity 100 % Genes 5 %
LYMPHEDEMA. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. FLT4, KIF11, ZMPSTE24, CCBE1, SOX18, FOXC2, LMNA, GATA2, GJC2 Specificity 12 % Genes 5 %
Hemophagocytic Lymphohistiocytosis: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NLRC4, CD27, ITK, STXBP2, XIAP, STX11, UNC13D, RAB27A, SH2D1A, LYST, BLOC1S6, MAGT1, SLC7A7, PRF1, GATA2, AP3B1 Specificity 7 % Genes 5 %
GATA2. By Fulgent Genetics Fulgent Genetics in United States. GATA2 Specificity 100 % Genes 5 %
Emberger Syndrome, Sequencing GATA2 Gene. By Reference Laboratory Genetics in Spain. GATA2 Specificity 100 % Genes 5 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes. By Reference Laboratory Genetics in Spain. CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, G6PC3, ELANE, CSF3R, JAK2, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, SLX4, FANCE , (...) View the complete list with 38 more genes Panel GTR000559793 complete gene list CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, RPL26, G6PC3, ELANE, CSF3R, JAK2, RAB27A, USB1, RPS7, SRP72, ERCC4, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, CTC1, CALR, TERT, TERC, LYST, DKC1, FANCB, RPS24, RPS17, RPL5, RPL11, RPS10, RPS26, GATA1, VPS13B, WAS, MPL, RAD51C, SBDS, GATA2, BRIP1, PALB2, TINF2, RPS19, RMRP, FANCC, TAZ, AP3B1, HAX1, RPL35A, SLC37A4, BRCA2 Specificity 4 % Genes 10 %
Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. FLT4, KIF11, VEGFC, ZMPSTE24, SOX18, FOXC2, GATA2 Specificity 15 % Genes 5 %
CSF2. By Fulgent Genetics Fulgent Genetics in United States. CSF2 Specificity 100 % Genes 5 %
RRAS2. By Fulgent Genetics Fulgent Genetics in United States. RRAS2 Specificity 100 % Genes 5 %
Macrocephaly. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PIK3CA, GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, PTCH1, NSD1, PTEN Specificity 10 % Genes 5 %
Macrocephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...) View the complete list with 1 more genes Panel GTR000560750 complete gene list RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1, PTEN Specificity 5 % Genes 5 %
EZH2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. EZH2 Specificity 100 % Genes 5 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes). By CGC Genetics in Portugal. NPRL3, CCND2, AKT3, PIK3R2, PIK3CA, EZH2, MTOR, DEPDC5 Specificity 13 % Genes 5 %
Weaver and Cohen-Gibson syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. EED, EZH2 Specificity 50 % Genes 5 %
Weaver and Cohen-Gibson syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. EED, EZH2 Specificity 50 % Genes 5 %
Sotos syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. APC2, EZH2, NFIX, NSD1 Specificity 25 % Genes 5 %
Sotos syndrome and related disorders Deletion/Duplication panel. By Connective Tissue Gene Tests in United States. APC2, EZH2, NFIX, NSD1 Specificity 25 % Genes 5 %
Sotos syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. APC2, EZH2, NFIX, NSD1 Specificity 25 % Genes 5 %
Weaver Syndrome (EZH2). By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada. EZH2 Specificity 100 % Genes 5 %
EZH2-Related Overgrowth. By MGZ Medical Genetics Center in Germany. EZH2 Specificity 100 % Genes 5 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Weaver syndrome. By Centogene AG - the Rare Disease Company in Germany. EZH2 Specificity 100 % Genes 5 %
Macrocephaly Panel. By CeGaT GmbH in Germany. HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN Specificity 6 % Genes 5 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL in Spain. UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...) View the complete list with 116 more genes Panel GTR000552865 complete gene list UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9, MSX1, FAM83H, GRHL3, DLX3, PLCB4, EDN1, MEOX1, AMELX, EDARADD, ADAMTSL4, WNT10A, EDAR, SF3B4, FOXE1, ALX3, TCF12, ERF, MEGF8, CDC45, LRP2, SPECC1L, IRF6, EDA, CDSN, NFKBIA, AXIN2, GDF3, BMP4, ALX1, VAX1, IFT122, IL11RA, DISP1, IFT43, MASP1, SATB2, GJA1, SH3BP2, GNAI3, EFTUD2, EFNB1, SALL4, ALX4, FGF10, WDR19, GDF6, KDM6A, TP63, MITF, GLI3, EZH2, SKI, TGFBR2, TGFBR1, GLI2, CDON, ZIC2, TGIF1, TWIST1, MSX2, RAB23, NAA10, PTH1R, WDR35, KAT6B, MED12, MID1, POLR1D, TFAP2A, SEMA3E, FGF3, SIX1, TCOF1, SOX10, SNAI2, PAX3, POLR1C, DSPP, COL11A2, COL11A1, COL9A2, COL9A3, COL9A1, SALL1, ZEB2, FGD1, OFD1, ANKRD11, KMT2D, SIX3, FGF8, FGFR1, PTCH1, NSD1, NIPBL, SMC1A, SMC3, RAD21, FGFR2, RUNX2, PORCN, IKBKG, GJB6, CHD7, FGFR3, CTSK, BCOR, DHODH, SHH, OTX2, PITX2, FOXC1, PAX6, COL2A1, EYA1, RECQL4 Specificity 1 % Genes 5 %
Weaver, syndrome: EZH2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. EZH2 Specificity 100 % Genes 5 %
EZH2. By Fulgent Genetics Fulgent Genetics in United States. EZH2 Specificity 100 % Genes 5 %
Focus::MCL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD , (...) View the complete list with 14 more genes Panel GTR000557733 complete gene list SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD, MYD88, TET2, SMARCA4, ABCC9, EZH2, NOTCH1, FAT4, KMT2D, GRIN2A, BTK, CDKN2A, ATM, TP53, PTEN Specificity 3 % Genes 5 %
EZH2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. EZH2 Specificity 100 % Genes 5 %
WEAVER SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. EZH2 Specificity 100 % Genes 5 %
Weaver Syndrome , Massive Sequencing (NGS) EZH2 Gene. By Reference Laboratory Genetics in Spain. EZH2 Specificity 100 % Genes 5 %
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes. By Reference Laboratory Genetics in Spain. HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN Specificity 7 % Genes 5 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...) View the complete list with 86 more genes Panel GTR000552175 complete gene list DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, RAB3GAP2, GLI3, EZH2, NFIX, ATR, PCNT, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, UPF3B, LAMC3, MED12, ACTG1, ACTB, ZEB2, CUL4B, CASK, OPHN1, PHF6, ATRX, OFD1, KIF1BP, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, ASPM, MCPH1, LARGE1, POMT1, POMT2, VRK1, L1CAM, FGF8, FKRP, AHI1, TMEM216, POMGNT1, FKTN, PTCH1, NSD1, NIPBL, WDR62, FOXG1, DHCR7, CDKL5, ARX, HESX1, SOX2, MKS1, SLC9A6, MRPS16, RARS2, TUBA1A, MECP2, SLC25A19, SHH, CEP290, NPHP1, TMEM67, OTX2, CC2D2A, TUBB3, PTEN, UBE3A Specificity 1 % Genes 5 %
EZH2 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. EZH2 Specificity 100 % Genes 5 %
EZH2 sequencing. By Genetic Services Laboratory University of Chicago in United States. EZH2 Specificity 100 % Genes 5 %
Macrocephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...) View the complete list with 1 more genes Panel GTR000519523 complete gene list RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1, PTEN Specificity 5 % Genes 5 %
Weaver syndrome (sequence analysis of EZH2 gene). By CGC Genetics in Portugal. EZH2 Specificity 100 % Genes 5 %
Macrocephaly (NGS panel for 16 genes). By CGC Genetics in Portugal. HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN Specificity 7 % Genes 5 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes). By CGC Genetics in Portugal. NPRL3, CCND2, AKT3, PIK3R2, PIK3CA, EZH2, MTOR, DEPDC5 Specificity 13 % Genes 5 %
Weaver Syndrome via EZH2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. EZH2 Specificity 100 % Genes 5 %
Weaver and Cohen-Gibson syndrome NGS panel. By Connective Tissue Gene Tests in United States. EED, EZH2 Specificity 50 % Genes 5 %
Macrocephaly Panel. By CeGaT GmbH in Germany. HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN Specificity 6 % Genes 5 %
Invitae Weaver Syndrome Test. By Invitae in United States. EZH2 Specificity 100 % Genes 5 %
Overgrowth syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GPC4, EZH2, NFIX, GPC3, NSD1 Specificity 20 % Genes 5 %
Macrocephaly: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, GPC3, PTCH1, NSD1, PTEN Specificity 10 % Genes 5 %
Weaver syndrome. By Bioarray in Spain. EZH2 Specificity 100 % Genes 5 %
Circulo Hematological. By Circulogene Theranostics in United States. EZH2 Specificity 100 % Genes 5 %
Weaver syndrome. By Labor Dr. Wisplinghoff in Germany. EZH2 Specificity 100 % Genes 5 %
Platelet Disorders. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, ITGA2, NBEAL2, PLAU, STIM1, TBXAS1, VIPAS39, USF1, P2RY12, KLKB1, P2RX1, PLA2G7, MLPH, FGG, VPS33B , (...) View the complete list with 35 more genes Panel GTR000552337 complete gene list MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, ITGA2, NBEAL2, PLAU, STIM1, TBXAS1, VIPAS39, USF1, P2RY12, KLKB1, P2RX1, PLA2G7, MLPH, FGG, VPS33B, TBXA2R, RAB27A, GNAQ, MYO5A, GGCX, FGB, FGA, GP6, FERMT3, ADRA2A, ANO6, A2M, DHCR24, GP1BA, ABCA1, F8, GNAS, VWF, LYST, BLOC1S6, GATA1, MYH9, FLNA, WAS, MPL, DPAGT1, ANKRD26, AP3B1, HPS3, HPS4, HPS5, HPS6, HPS1, DTNBP1, RUNX1 Specificity 2 % Genes 5 %
Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia. By Genetic Pathology SA Pathology in Australia. RUNX1 Specificity 100 % Genes 5 %
RUNX1-AML1 sequencing. By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada. RUNX1 Specificity 100 % Genes 5 %
RT-PCR t(12;21)(TEL/AML1). By CGC Genetics in Portugal. ETV6, RUNX1 Specificity 50 % Genes 5 %
TEL/AML1 fusion gene quantification. By CGC Genetics in Portugal. ETV6, RUNX1 Specificity 50 % Genes 5 %
RT-PCR t(8;21)(AML1/ETO). By CGC Genetics in Portugal. RUNX1T1, RUNX1 Specificity 50 % Genes 5 %
Acute myeloid leukemia (sequence analysis of RUNX1 gene). By CGC Genetics in Portugal. RUNX1 Specificity 100 % Genes 5 %
Detection by FISH of t(8;21) AML1/ETO1. By CGC Genetics in Portugal. RUNX1T1, RUNX1 Specificity 50 % Genes 5 %
Acute myeloid leukemia (AML, deletions/duplications analysis of RUNX1 gene). By CGC Genetics in Portugal. RUNX1 Specificity 100 % Genes 5 %
Acute myeloid leukemia (AML, deletions/duplications analysis of RUNX1 gene). By CGC Genetics in Portugal. RUNX1 Specificity 100 % Genes 5 %
Thrombocytopenia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GP9, GP1BB, MASTL, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, ANKRD26, CYCS, RUNX1 Specificity 9 % Genes 5 %
Thrombocytopenia panel. By Centogene AG - the Rare Disease Company in Germany. GP9, GP1BB, MASTL, ITGA2B, ITGB3, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, RUNX1 Specificity 9 % Genes 5 %
Acute myeloid leukemia. By Centogene AG - the Rare Disease Company in Germany. RUNX1 Specificity 100 % Genes 5 %
Bone marrow failure syndromes with Leukemia Panel. By CeGaT GmbH in Germany. CASP10, GATA1, CEBPA, NBN, RUNX1 Specificity 20 % Genes 5 %
Thrombocytopenia. By Asper Biogene Asper Biogene LLC in Estonia. GP9, GP1BB, MASTL, ITGA2B, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, ANKRD26, CYCS, RUNX1 Specificity 8 % Genes 5 %
RUNX1 Sequence Analysis. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. RUNX1 Specificity 100 % Genes 5 %
Invitae Familial Platelet Disorder with Propensity to Myeloid Malignancy Test. By Invitae in United States. RUNX1 Specificity 100 % Genes 5 %
Thrombocytopenia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GP9, GP1BB, MASTL, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, RUNX1 Specificity 10 % Genes 5 %
Thrombocytopenia Panel. By Blueprint Genetics in Finland. ARPC1B, MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2 , (...) View the complete list with 14 more genes Panel GTR000552689 complete gene list ARPC1B, MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, THBD, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, CYCS, RUNX1 Specificity 3 % Genes 5 %
Familial platelet syndrome with predisposition to acute myelogenous leukemia. By Bioarray in Spain. RUNX1 Specificity 100 % Genes 5 %
Familial Platelet with Propensity to Acute Myeloid Leukemia Syndrome, Sequencing RUNX1 Gene. By Reference Laboratory Genetics in Spain. RUNX1 Specificity 100 % Genes 5 %
RUNX1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. RUNX1 Specificity 100 % Genes 5 %
RUNX1 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. RUNX1 Specificity 100 % Genes 5 %
RUNX1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. RUNX1 Specificity 100 % Genes 5 %
AML1/ETO quantification. By CGC Genetics in Portugal. RUNX1T1, RUNX1 Specificity 50 % Genes 5 %
Detection by FISH of t(12;21) ETV6/AML1. By CGC Genetics in Portugal. ETV6, RUNX1 Specificity 50 % Genes 5 %
Bleeding Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, PRKACG, F7, VKORC1, GP1BB, SERPINE1, MASTL, ITGA2B, ITGB3, CD36 , (...) View the complete list with 41 more genes Panel GTR000512341 complete gene list LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, PRKACG, F7, VKORC1, GP1BB, SERPINE1, MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, ITGA2, NBEAL2, PLAU, TBXAS1, P2RY12, P2RX1, FGG, TBXA2R, GGCX, FGB, FGA, GP6, ANO6, GP1BA, ABCG8, ABCG5, ADAMTS13, F8, F9, VWF, F11, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, AP3B1, CYCS, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, RUNX1, F5, F2 Specificity 2 % Genes 5 %
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via RUNX1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RUNX1 Specificity 100 % Genes 5 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded. By PreventionGenetics PreventionGenetics in United States. MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5 , (...) View the complete list with 9 more genes Panel GTR000552382 complete gene list MECOM, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, NBEAL2, GP1BA, ABCG8, ABCG5, ADAMTS13, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, CYCS, RUNX1 Specificity 4 % Genes 5 %
Thrombocytopenia NGS Panel. By Connective Tissue Gene Tests in United States. MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9 , (...) View the complete list with 8 more genes Panel GTR000559348 complete gene list MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9, WAS, MPL, GBA, ANKRD26, AP3B1, CYCS, SMPD1, RUNX1 Specificity 4 % Genes 5 %
Thrombocytopenia Deletion / Duplication Panel. By Connective Tissue Gene Tests in United States. MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9 , (...) View the complete list with 8 more genes Panel GTR000559377 complete gene list MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9, WAS, MPL, GBA, ANKRD26, AP3B1, CYCS, SMPD1, RUNX1 Specificity 4 % Genes 5 %
Thrombocytopenia Comprehensive Panel. By Connective Tissue Gene Tests in United States. MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9 , (...) View the complete list with 8 more genes Panel GTR000559397 complete gene list MECOM, TUBB1, FLI1, FYB1, PRKACG, SLFN14, SRC, WIPF1, RBM8A, ETV6, MASTL, ITGA2B, ITGB3, HOXA11, NBEAL2, TBXAS1, ADAMTS13, LYST, GATA1, MYH9, WAS, MPL, GBA, ANKRD26, AP3B1, CYCS, SMPD1, RUNX1 Specificity 4 % Genes 5 %
RUNX1. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. RUNX1 Specificity 100 % Genes 5 %
Leukemia, acute myeloid. By Centogene AG - the Rare Disease Company in Germany. RUNX1 Specificity 100 % Genes 5 %
Platelet disorder familial with associated myeloid malignancy. By Centogene AG - the Rare Disease Company in Germany. RUNX1 Specificity 100 % Genes 5 %
Fluorescent in situ Hybridization - Hematopathology. By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States. ABI1, DLEU1, CRLF2, CDKN2C, CKS1B, MECOM, MYC, BCL6, PBX1, TCF3, RARA, CBFB, PML, BCL2, PDGFRB, RUNX1T1, BCR, ETV6, PDGFRA, ABL1 , (...) View the complete list with 9 more genes Panel GTR000558616 complete gene list ABI1, DLEU1, CRLF2, CDKN2C, CKS1B, MECOM, MYC, BCL6, PBX1, TCF3, RARA, CBFB, PML, BCL2, PDGFRB, RUNX1T1, BCR, ETV6, PDGFRA, ABL1, JAK2, IGH, KMT2A, FGFR1, CDKN2A, ATM, RB1, TP53, RUNX1 Specificity 4 % Genes 5 %
RUNX1 Sequence Analysis-Somatic. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. RUNX1 Specificity 100 % Genes 5 %
aCGH Deletion/Duplication Analysis. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. SERPIND1, HRG, PLA2G4A, C4BPB, C4BPA, LMAN1, SERPINC1, F13A1, F10, GP9, ACTN1, CFHR4, F7, VKORC1, PROC, RBM8A, G6PC3, STXBP2, ELANE, GP1BB , (...) View the complete list with 45 more genes Panel GTR000523364 complete gene list SERPIND1, HRG, PLA2G4A, C4BPB, C4BPA, LMAN1, SERPINC1, F13A1, F10, GP9, ACTN1, CFHR4, F7, VKORC1, PROC, RBM8A, G6PC3, STXBP2, ELANE, GP1BB, MASTL, HOXA11, PLAU, FGG, TBXA2R, GGCX, FGB, FGA, GP6, GP1BA, ADAMTS13, DGKE, CFHR3, CFHR1, F8, F9, THBD, C3, CD46, CFHR5, CFH, CFI, CFB, VWF, F11, ACVRL1, BLOC1S6, GATA1, MYH9, LMNA, WAS, MPL, ENG, HAX1, CYCS, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, COL1A1, RUNX1, F5, F2 Specificity 2 % Genes 5 %
RUNX1. By Fulgent Genetics Fulgent Genetics in United States. RUNX1 Specificity 100 % Genes 5 %
Platelet Function Disorder Panel. By Blueprint Genetics in Finland. ARPC1B, GP9, WIPF1, GP1BB, ITGA2B, ITGB3, NBEAL2, P2RY12, TBXA2R, GP1BA, THPO, BLOC1S6, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1 , (...) View the complete list with 1 more genes Panel GTR000552640 complete gene list ARPC1B, GP9, WIPF1, GP1BB, ITGA2B, ITGB3, NBEAL2, P2RY12, TBXA2R, GP1BA, THPO, BLOC1S6, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, RUNX1 Specificity 5 % Genes 5 %
Bleeding Disorder/Coagulopathy Panel. By Blueprint Genetics in Finland. LMAN1, MCFD2, MECOM, SERPINC1, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, F7, VKORC1, PROC, PROS1, RBM8A , (...) View the complete list with 42 more genes Panel GTR000552647 complete gene list LMAN1, MCFD2, MECOM, SERPINC1, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, F7, VKORC1, PROC, PROS1, RBM8A, GP1BB, ETV6, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, NBEAL2, P2RY12, FGG, TBXA2R, GGCX, FGB, FGA, GP1BA, ABCG8, ABCG5, ADAMTS13, F8, F9, THBD, VWF, F11, BLOC1S6, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, AP3B1, CYCS, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, RUNX1, F5, F2 Specificity 2 % Genes 5 %
FAMILIAL PLATELET SYNDROME WITH PREDISPOSITION TO ACUTE MYELOGENOUS LEUKEMIA. By Laboratorio de Genetica Clinica SL in Spain. RUNX1 Specificity 100 % Genes 5 %
Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes. By Reference Laboratory Genetics in Spain. GP9, SRC, GP1BB, JAK2, ITGA2B, ITGB3, GP1BA, ADAMTS13, GATA1, MYH9, WAS, MPL, ANKRD26, CYCS, RUNX1 Specificity 7 % Genes 5 %
Neutrophil immunodeficiency syndrome. By Centogene AG - the Rare Disease Company in Germany. RAC2 Specificity 100 % Genes 5 %
B-negative SCID panel. By Centogene AG - the Rare Disease Company in Germany. LIG4, NHEJ1, RAC2, RAG1, RAG2, DCLRE1C, ADA, AK2 Specificity 13 % Genes 5 %
Invitae Common Variable Immunodeficiency Panel. By Invitae in United States. TNFSF12, IL21R, IL21, PLCG2, PRKCD, TNFRSF13C, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, PIK3CD, RAC2, TNFRSF13B, STAT3 Specificity 6 % Genes 5 %
Neutropenia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. JAGN1, RAC2, GFI1, VPS45, G6PC3, ELANE, CSF3R, WAS, HAX1 Specificity 12 % Genes 5 %
RAC2 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RAC2 Specificity 100 % Genes 5 %
RAC2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RAC2 Specificity 100 % Genes 5 %
Comprehensive SCID panel. By Centogene AG - the Rare Disease Company in Germany. CD247, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, RMRP, PNP , (...) View the complete list with 3 more genes Panel GTR000527969 complete gene list CD247, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, RMRP, PNP, IL2RG, ADA, AK2 Specificity 9 % Genes 10 %
Invitae Monogenic Autoimmunity Panel. By Invitae in United States. NFAT5, TNFSF12, ITCH, IL21R, IL21, PLCG2, ACP5, IL10, IL2RA, TMEM173, PRKCD, ADA2, TNFRSF13C, IL10RB, ICOS, CR2, TPP2, PIK3R1, IL10RA, CTLA4 , (...) View the complete list with 53 more genes Panel GTR000553746 complete gene list NFAT5, TNFSF12, ITCH, IL21R, IL21, PLCG2, ACP5, IL10, IL2RA, TMEM173, PRKCD, ADA2, TNFRSF13C, IL10RB, ICOS, CR2, TPP2, PIK3R1, IL10RA, CTLA4, NFKB2, RFXAP, RFXANK, RFX5, CD27, FADD, NFKBIA, LRBA, PIK3CD, ORAI1, STAT5B, RAC2, STXBP2, CASP10, FASLG, XIAP, STX11, FAS, UNC13D, CD40LG, AICDA, TNFRSF13B, STIM1, RAB27A, NCF4, NCF2, SH2D1A, ADAR, IFIH1, DOCK8, LYST, BLOC1S6, FOXP3, TBX1, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, BTK, WAS, SLC7A7, CYBB, PRF1, RMRP, AIRE, PNP, STAT3, CYBA, UNG, AP3B1, CASP8, STAT1 Specificity 2 % Genes 5 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel. By Invitae in United States. DOCK2, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, IKBKB, LCK, CTPS1, BCL10, CD247, CD8A, CORO1A, CD3G, MALT1, IL21R, IL21, B2M, CARD11, PRKDC , (...) View the complete list with 29 more genes Panel GTR000553769 complete gene list DOCK2, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, IKBKB, LCK, CTPS1, BCL10, CD247, CD8A, CORO1A, CD3G, MALT1, IL21R, IL21, B2M, CARD11, PRKDC, ICOS, STK4, RFXAP, RFXANK, RFX5, CIITA, CD27, LRBA, PTPRC, LIG4, NHEJ1, RAC2, ITK, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, JAK3, DOCK8, MAGT1, DCLRE1C, PNP, IL2RG, ADA, AK2, TAP1 Specificity 5 % Genes 10 %
Invitae Combined Immunodeficiency (CID) Panel. By Invitae in United States. DOCK2, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, IKBKB, LCK, CTPS1, BCL10, CD8A, CD3G, MALT1, IL21R, IL21, B2M, CARD11, ICOS, STK4, RFXAP , (...) View the complete list with 12 more genes Panel GTR000553822 complete gene list DOCK2, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, IKBKB, LCK, CTPS1, BCL10, CD8A, CD3G, MALT1, IL21R, IL21, B2M, CARD11, ICOS, STK4, RFXAP, RFXANK, RFX5, CIITA, CD27, LRBA, RAC2, ITK, ZAP70, CD40LG, DOCK8, MAGT1, TAP1 Specificity 4 % Genes 5 %
Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PTPRC, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, DCLRE1C, PNP, ADA Specificity 10 % Genes 5 %
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CD247, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, PNP, IL2RG , (...) View the complete list with 1 more genes Panel GTR000523242 complete gene list CD247, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, PNP, IL2RG, ADA Specificity 10 % Genes 10 %
RAC2. By Fulgent Genetics Fulgent Genetics in United States. RAC2 Specificity 100 % Genes 5 %
Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes. By Reference Laboratory Genetics in Spain. RAC2, LAMTOR2, GFI1, G6PC3, ELANE, CSF3R, WAS, TAZ, HAX1 Specificity 12 % Genes 5 %
Noonan-Like Syndrome via RRAS Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RRAS Specificity 100 % Genes 5 %
MLLT11. By Fulgent Genetics Fulgent Genetics in United States. MLLT11 Specificity 100 % Genes 5 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A Specificity 1 % Genes 5 %
SETBP1 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. SETBP1 Specificity 100 % Genes 5 %
Schinzel-Giedion midface retraction syndrome. By Centogene AG - the Rare Disease Company in Germany. SETBP1 Specificity 100 % Genes 5 %
Single gene testing SETBP1. By CeGaT GmbH in Germany. SETBP1 Specificity 100 % Genes 5 %
SETBP1. By Fulgent Genetics Fulgent Genetics in United States. SETBP1 Specificity 100 % Genes 5 %
Schinzel-Giedion midface retraction syndrome. By Bioarray in Spain. SETBP1 Specificity 100 % Genes 5 %
SCHINZEL-GIEDION SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. SETBP1 Specificity 100 % Genes 5 %
Schinzel-Giedion Syndrome , Sequencing SETBP1 Gene. By Reference Laboratory Genetics in Spain. SETBP1 Specificity 100 % Genes 5 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes. By Reference Laboratory Genetics in Spain. ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR , (...) View the complete list with 71 more genes Panel GTR000559831 complete gene list ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, FMN2, WASHC4, NDST1, TAF2, TTI2, ZMYND11, VLDLR, DPP6, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, ARID1A, SMARCB1, SMARCA4, NSUN2, IL1RAPL1, ARHGEF6, BRWD3, SHROOM4, RPS6KA3, FTSJ1, GDI1, UPF3B, TSPAN7, DLG3, ZNF711, AFF2, HUWE1, NLGN4X, CTNNB1, ARID1B, AP1S2, EHMT1, KIRREL3, MED12, ADNP, SETBP1, CASK, OPHN1, KDM5C, PAK3, SYP, FGD1, ATRX, CNTNAP2, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, TBL1XR1, PQBP1, DEAF1, MBD5, GRIN2B, DYNC1H1, KIF1A, SYNGAP1, MEF2C, ARX, SLC6A8, ACSL4, TUSC3, STXBP1, MECP2 Specificity 2 % Genes 5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders. By Athena Diagnostics Inc in United States. ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, SETBP1, SERPINI1, KIF1BP, KCNJ10, ANKRD11, PIGV, PIGN, PIGA, ROGDI, KANSL1, MAGI2, KMT2D, LGI1, KCNA1 , (...) View the complete list with 11 more genes Panel GTR000559468 complete gene list ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, SETBP1, SERPINI1, KIF1BP, KCNJ10, ANKRD11, PIGV, PIGN, PIGA, ROGDI, KANSL1, MAGI2, KMT2D, LGI1, KCNA1, PLA2G6, NIPBL, TSC1, SMC3, SYNGAP1, TSC2, RAI1, PANK2, ADGRV1, HPRT1, ATP6V0A2 Specificity 4 % Genes 5 %
SETBP1 sequencing. By Genetic Services Laboratory University of Chicago in United States. SETBP1 Specificity 100 % Genes 5 %
SETBP1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SETBP1 Specificity 100 % Genes 5 %
Schinzel-Giedion syndrome (sequence analysis of SETBP1 gene). By CGC Genetics in Portugal. SETBP1 Specificity 100 % Genes 5 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DCPS, MYT1L, MED13L, TRIO, SIN3A, MAP3K7, ELP2, EXTL3, CIC, TBC1D23, TRAPPC6B, ABI2, CAPS, DMBT1, FBXO47, MAPK8, PIDD1, SDK2, SLAIN1, SPATA13 , (...) View the complete list with 90 more genes Panel GTR000556365 complete gene list DCPS, MYT1L, MED13L, TRIO, SIN3A, MAP3K7, ELP2, EXTL3, CIC, TBC1D23, TRAPPC6B, ABI2, CAPS, DMBT1, FBXO47, MAPK8, PIDD1, SDK2, SLAIN1, SPATA13, SUMF2, SYNRG, TET1, UBA7, USP44, ZBTB11, BCL11A, MAGEA11, AFF3, DDX3X, LAMC1, SNX14, HIVEP2, CC2D1A, CRBN, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, MED23, GATAD2B, FMN2, WASHC4, METTL23, NDST1, SETD5, MPDZ, VPS35, BDNF, ADGRG2, MED25, CLCN4, IL1RAPL1, NAA10, SLC16A2, BRWD3, ZDHHC9, RPS6KA3, FTSJ1, GDI1, UPF3B, UBE2A, TSPAN7, DLG3, ZNF711, AFF2, HUWE1, NLGN4X, CTNNB1, ARID1B, TBR1, AP1S2, KIRREL3, ADNP, PTCHD1, SHANK3, SETBP1, RAB39B, CUL4B, OPHN1, KDM5C, PAK3, ARHGEF9, GRIA3, FGD1, IQSEC2, ATRX, CNTNAP2, TCF4, GRIN1, SCN8A, PQBP1, DEAF1, TBC1D24, MBD5, CHD2, GRIN2B, SCN2A, SMC1A, SLC2A1, MEF2C, FOXG1, ARX, SLC6A8, SLC9A6, ACSL4, TUSC3, STXBP1, MECP2 Specificity 1 % Genes 5 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes. By Reference Laboratory Genetics in Spain. ZBTB18, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CDH15, CACNG2, EPB41L1, ZMYND11, DPP6, ARID1A, SMARCB1, SMARCA4, CTNNB1, ARID1B, EHMT1, KIRREL3, ADNP, SETBP1 , (...) View the complete list with 11 more genes Panel GTR000560020 complete gene list ZBTB18, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CDH15, CACNG2, EPB41L1, ZMYND11, DPP6, ARID1A, SMARCB1, SMARCA4, CTNNB1, ARID1B, EHMT1, KIRREL3, ADNP, SETBP1, DYRK1A, GRIN1, KANSL1, TBL1XR1, DEAF1, MBD5, GRIN2B, DYNC1H1, KIF1A, SYNGAP1, MEF2C Specificity 4 % Genes 5 %
Schinzel-Giedion syndrome. By Labor Dr. Wisplinghoff in Germany. SETBP1 Specificity 100 % Genes 5 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing). By Molecular Diagnostic Laboratory LabCorp in United States. RAG1, RAG2, IL7R, CD3D, CD3E, JAK3, IL2RG, ADA Specificity 13 % Genes 5 %
Severe Combined Immunodeficiency (SCID): JAK3 (Known mutation). By Molecular Diagnostic Laboratory LabCorp in United States. JAK3 Specificity 100 % Genes 5 %
Severe Combined Immunodeficiency (SCID): Two-gene Profile (IL2RG, JAK3) (Full Gene Sequencing). By Molecular Diagnostic Laboratory LabCorp in United States. JAK3, IL2RG Specificity 50 % Genes 5 %
JAK3 Gene Sequencing. By GeneDx in United States. JAK3 Specificity 100 % Genes 5 %
JAK3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. JAK3 Specificity 100 % Genes 5 %
Severe combined immunodeficiency Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA Specificity 6 % Genes 5 %
Severe combined immunodeficiency Del/dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA Specificity 6 % Genes 5 %
Severe combined immunodeficiency, T-/B+ by JAK3 deficiency (sequence analysis of JAK3 gene). By CGC Genetics in Portugal. JAK3 Specificity 100 % Genes 5 %
JAK3 Gene. By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States. JAK3 Specificity 100 % Genes 5 %
Severe combined immunodeficiency (SCID) panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. CD8A, CORO1A, CD3G, IL2RA, PRKDC, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, STIM1, JAK3 , (...) View the complete list with 7 more genes Panel GTR000509659 complete gene list CD8A, CORO1A, CD3G, IL2RA, PRKDC, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, STIM1, JAK3, DOCK8, TBX1, DCLRE1C, PNP, IL2RG, ADA, AK2 Specificity 4 % Genes 5 %
Combined immunodeficiencies Panel. By CeGaT GmbH in Germany. TAPBP, TAP2, TRAC, TNFRSF4, RHOH, IKBKB, LCK, CD247, CD8A, CORO1A, CD3G, MBL2, MALT1, IL21R, ACP5, CARD11, PRKDC, CR2, TTC7A, STK4 , (...) View the complete list with 40 more genes Panel GTR000528903 complete gene list TAPBP, TAP2, TRAC, TNFRSF4, RHOH, IKBKB, LCK, CD247, CD8A, CORO1A, CD3G, MBL2, MALT1, IL21R, ACP5, CARD11, PRKDC, CR2, TTC7A, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, CD27, LRBA, PIK3CD, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ITK, POLE, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, STIM1, THBD, JAK3, DOCK8, UNC119, MAGT1, SEMA3E, TBX1, DCLRE1C, RMRP, CHD7, PNP, IL2RG, ADA, AK2, TAP1 Specificity 2 % Genes 5 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA, F8, F9, JAK3, THRB, F11, PGK1, DNAH5, CHST6, CASQ2, TRDN, THOC2, IL1RAPL1, SLC16A2, BRWD3, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, AFF2, HUWE1, PHF8, MVK, PEX10, NLGN4X, AP1S2, TPRN, TRIOBP, TMIE, PEX6, GJB3, TMC1, PRPS1, TMPRSS3, SLC4A11, STRC, POLR1C, OTOF, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, GRIA3, FGD1, IQSEC2, ATRX, MFSD8, PQBP1, DCX, POMT1, POMT2, TNNT1, SPART, L1CAM, BSND, COL4A4, CYP21A2, GNRHR, KCNJ11, DYSF, FKRP, CLCN1, AHI1, SPG11, ZFYVE26, GDAP1, MTMR2, SH3TC2, NDRG1, TMEM216, PKHD1, LAMC2, CLN5, CAPN3, TTPA, PEX1, MPL, MCOLN1, GRHPR, TH, UGT1A1, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, CTNS, NEB, G6PD, FKTN, LAMB3, HBA1, CLN8, CLN6, NBN, ATM, SMN1, RMRP, POU3F4, PLP1, PLOD1, NPC2, NPC1, LIPA, LDLR, IDUA, IDS, GLA, GJB2, DMD, DHCR7, GBA, FANCC, CFTR, ARX, ASPA, ARSA, AR, AIRE, IL2RG, GNMT, ARSB, AHCY, AGA, ADA, ABCD4, NR2E3, SLC6A8, CYP17A1, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, ALDH4A1, IVD, GALC, SUCLG1, MLYCD, MAN2B1, DBT, MUT, MMAB, MCEE, SGSH, NAGLU, HGSNAT, GNS, GALNS, CPT1A, SURF1, AGXT, PAH, PTS, ACOX1, HEXB, HEXA, LMBRD1, MMADHC, ABCD1, ACSL4, OTC, RP2, AGPS, MYO7A, ETHE1, EYS, AMT, GLDC, PCCB, SPG7, CERKL, ACADSB, CTSD, TSFM, TUFM, HAX1, P3H1, SUCLA2, RDH12, CNGA1, G6PC, TAT, HMGCL, FAH, RS1, CNGB1, PDE6A, DHDDS, PDHB, ACSF3, IDH3B, CDH23, WHRN, SLC26A4, MECP2, CRB1, GUCY2D, RPE65, RPGR, TULP1, FH, HADHA, PANK2, SLC25A13, DLD, PCDH15, USH2A, CLRN1, CEP290, NPHP1, TMEM67, CNGB3, NDP, ABCA4, OCRL, GLB1, GNPTAB, CPT2, CPS1, MTRR, GPR143, TYR, SLC45A2, TYRP1, RAX, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, HLCS, ARG1, USH1C, PC, USH1G, ALDOB, AIPL1, ACAT1, ACADVL, AGL, ACADS, ACADM, CD40LG, LDLRAP1, PCBD1, SLC46A1, EVC2, ABCB11, MCCC2, MCCC1, MTHFR, FMR1, F5, F2 Specificity 1 % Genes 5 %
Invitae T-B+NK- Severe Combined Immunodeficiency (SCID) Panel. By Invitae in United States. JAK3, IL2RG Specificity 50 % Genes 5 %
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CD247, FOXN1, ORAI1, PTPRC, STAT5B, ZAP70, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, PNP, IL2RG Specificity 8 % Genes 5 %
JAK3. By Fulgent Genetics Fulgent Genetics in United States. JAK3 Specificity 100 % Genes 5 %
Severe Combined Immunodeficiency Panel. By Blueprint Genetics in Finland. BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G , (...) View the complete list with 59 more genes Panel GTR000552731 complete gene list BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G, MALT1, ITGB2, SPINK5, DNMT3B, IL2RA, CARD11, PGM3, TYK2, PRKDC, SMARCAL1, EPG5, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, CD27, LRBA, PIK3CD, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ITK, POLE, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, IFNGR1, CD40LG, CD40, STIM1, JAK3, SH2D1A, DOCK8, PARN, UNC119, MAGT1, TBX1, WAS, RTEL1, DCLRE1C, ATM, RMRP, BLM, PNP, IL2RG, ADA, STAT3, AK2, TAP1, STAT1, PMS2 Specificity 2 % Genes 5 %
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. IKBKB, CD247, CORO1A, CARD11, PRKDC, FOXN1, ORAI1, PTPRC, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, DCLRE1C, RMRP, IL2RG, ADA , (...) View the complete list with 2 more genes Panel GTR000558302 complete gene list IKBKB, CD247, CORO1A, CARD11, PRKDC, FOXN1, ORAI1, PTPRC, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, DCLRE1C, RMRP, IL2RG, ADA, AK2, STAT1 Specificity 5 % Genes 5 %
Sever Combined T-B Immune Deficiency due to JAK3 Deficiency , Sequencing JAK3 Gene. By Reference Laboratory Genetics in Spain. JAK3 Specificity 100 % Genes 5 %
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes. By Reference Laboratory Genetics in Spain. FOXN1, ORAI1, PTPRC, STAT5B, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, DCLRE1C, PNP, IL2RG, ADA, AK2 Specificity 6 % Genes 5 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing). By Molecular Diagnostic Laboratory LabCorp in United States. RAG1, RAG2, IL7R, CD3D, CD3E, JAK3, DCLRE1C, IL2RG, ADA Specificity 12 % Genes 5 %
Severe Combined Immunodeficiency (SCID): JAK3 (Full Gene Sequencing). By Molecular Diagnostic Laboratory LabCorp in United States. JAK3 Specificity 100 % Genes 5 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, RMRP, PNP, IL2RG, ADA Specificity 5 % Genes 5 %
JAK3 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. JAK3 Specificity 100 % Genes 5 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, RMRP, PNP, IL2RG, ADA Specificity 6 % Genes 5 %
JAK3 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. JAK3 Specificity 100 % Genes 5 %
Severe combined immunodeficency Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA Specificity 6 % Genes 5 %
Severe combined immunodeficiency, AR, T- B+ (deletion/duplication analysis of JAK3 gene). By CGC Genetics in Portugal. JAK3 Specificity 100 % Genes 5 %
Severe combined immunodeficiency, AR, T- B+ (deletion/duplication analysis of JAK3 gene). By CGC Genetics in Portugal. JAK3 Specificity 100 % Genes 5 %
B-positive SCID panel. By Centogene AG - the Rare Disease Company in Germany. CD247, FOXN1, ORAI1, PTPRC, STAT5B, ZAP70, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, RMRP, PNP, IL2RG Specificity 7 % Genes 5 %
SCID autosomal recessive T negative B positive type. By Centogene AG - the Rare Disease Company in Germany. JAK3 Specificity 100 % Genes 5 %
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive. By Department of Clinical Immunology Odense University Hospital in Denmark. JAK3 Specificity 100 % Genes 5 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel. By Invitae in United States. CD247, CORO1A, PRKDC, PTPRC, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, JAK3, DCLRE1C, PNP, IL2RG, ADA, AK2 Specificity 6 % Genes 5 %
SCID, autosomal recessive, T-negative/B-positive type. By Bioarray in Spain. JAK3 Specificity 100 % Genes 5 %
Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. RAG1, RAG2, IL7R, CD3D, CD3E, JAK3, DCLRE1C, IL2RG, ADA Specificity 12 % Genes 5 %
JAK3 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. JAK3 Specificity 100 % Genes 5 %
Circulo Hematological. By Circulogene Theranostics in United States. JAK3 Specificity 100 % Genes 5 %
SEVERE COMBINED IMMUNODEFICIENCY (SCID) T- B- NK-, (AUTOSOMAL RECESSIVE). By Laboratorio de Genetica Clinica SL in Spain. JAK3 Specificity 100 % Genes 5 %
CBL. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CBL Specificity 100 % Genes 5 %
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia - CBL Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CBL Specificity 100 % Genes 5 %
Noonan-like syndrome with or without juvenile myelomonocytic leukemia 1 (sequence analysis of CBL gene). By CGC Genetics in Portugal. CBL Specificity 100 % Genes 5 %
CBL-Related Disorders via the CBL Gene. By PreventionGenetics PreventionGenetics in United States. CBL Specificity 100 % Genes 5 %
CBL. By Fulgent Genetics Fulgent Genetics in United States. CBL Specificity 100 % Genes 5 %
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia. By Bioarray in Spain. CBL Specificity 100 % Genes 5 %
CBL Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CBL Specificity 100 % Genes 5 %
FoundationOne®. By Foundation Medicine, Inc. in United States. ABL1, CBL Specificity 50 % Genes 5 %
Noonan-Like Syndrome with or without Juvenile Myelomonocytic Leukemia , Sequencing CBL Gene. By Reference Laboratory Genetics in Spain. CBL Specificity 100 % Genes 5 %
Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia. By Centogene AG - the Rare Disease Company in Germany. CBL Specificity 100 % Genes 5 %
Hypertrophic Cardiomyopathy (HCM) Panel. By Blueprint Genetics in Finland. ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC , (...) View the complete list with 18 more genes Panel GTR000552625 complete gene list ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC, MYH7, CBL, SOS1, HRAS, GLA, BRAF, FXN, COX15, AGK, RAF1, NDUFAF2, SLC25A4, ELAC2, GAA, ACADVL, AGL, ACAD9, TTR Specificity 3 % Genes 5 %
ARHGAP26. By Fulgent Genetics Fulgent Genetics in United States. ARHGAP26 Specificity 100 % Genes 5 %

Alternate names

Juvenile Myelomonocytic Leukemia; Jmml Is also known as leukemia, juvenile myelomonocytic;jmml; juvenile chronic myelomonocytic leukemia.

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