Pancreatitis, Hereditary; Pctt

Description

Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.

Genes related to Pancreatitis, Hereditary; Pctt

CPA1
SPINK1
CTRC
PRSS2
PRSS1
CASR
CFTR

Clinical Features

Top most frequent phenotypes and symptoms related to Pancreatitis, Hereditary; Pctt

Milia
Neoplasm
Pain
Fever
Diabetes mellitus
Abdominal pain
Jaundice
Carcinoma
Aciduria
Aminoaciduria

And another 19 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Pancreatitis, Hereditary; Pctt have a estimated prevalence of 0.43 per 100k worldwide.

Accelerate your rare disease diagnosis with us

Learn more

Pancreatitis, Hereditary; Pctt Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pancreas Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. UBR1, CLDN2, CPA1, CTRC, PRSS1, SPINK1, CASR, CEL, SBDS, CFTR Specificity 60 % Genes 86 %
Chronic Hereditary Pancreatitis via CPA1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CPA1 Specificity 100 % Genes 15 %
CPA1. By MGZ Medical Genetics Center in Germany. CPA1 Specificity 100 % Genes 15 %
CPA1. By Fulgent Genetics Fulgent Genetics in United States. CPA1 Specificity 100 % Genes 15 %
Pancreatitis Panel. By Blueprint Genetics in Finland. UBR1, CPA1, GPIHBP1, APOC2, APOA5, CTRC, PRSS1, SPINK1, CFTR Specificity 56 % Genes 72 %
Hereditary pancreatitis. By Center for Human Genetics, Inc in United States. CTRC, PRSS1, SPINK1 Specificity 100 % Genes 43 %
SPINK1-Related Hereditary Pancreatitis. By Center for Human Genetics, Inc in United States. SPINK1 Specificity 100 % Genes 15 %
Hereditary pancreatitis. By Center for Human Genetics, Inc in United States. PRSS1, SPINK1 Specificity 100 % Genes 29 %
Hereditary pancreatitis. By Center for Human Genetics, Inc in United States. CTRC, PRSS1, SPINK1, CFTR Specificity 100 % Genes 58 %
Pancreatitis: SPINK1 (Full Gene Sequencing). By Molecular Diagnostic Laboratory LabCorp in United States. SPINK1 Specificity 100 % Genes 15 %
Pancreatitis: SPINK1 (Known Mutation). By Molecular Diagnostic Laboratory LabCorp in United States. SPINK1 Specificity 100 % Genes 15 %
Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing). By Molecular Diagnostic Laboratory LabCorp in United States. PRSS1, SPINK1, CFTR Specificity 100 % Genes 43 %
Pancreas Panel Deletion/duplication Analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CTRC, SPINK1, CASR, CFTR Specificity 100 % Genes 58 %
Pancreatitis (SPINK1) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. SPINK1 Specificity 100 % Genes 15 %
Pancreatitis, Panel (CTRC, CFTR, PRSS1, SPINK1) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CTRC, PRSS1, SPINK1, CFTR Specificity 100 % Genes 58 %
Pancreatitis Panel. By Ambry Genetics in United States. CTRC, PRSS1, SPINK1, CFTR Specificity 100 % Genes 58 %
SPINK1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SPINK1 Specificity 100 % Genes 15 %
SPINK1. Sequencing of the exon 3. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SPINK1 Specificity 100 % Genes 15 %
Pancreatitis Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CTRC, SPINK1, CASR, CFTR Specificity 100 % Genes 58 %
Pancreatitis Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CTRC, PRSS1, SPINK1, CASR, CFTR Specificity 100 % Genes 72 %
Pancreatitis Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CTRC, PRSS1, SPINK1, CASR, CFTR Specificity 100 % Genes 72 %
Pancreatitis, hereditary (sequence analysis of SPINK1 gene). By CGC Genetics in Portugal. SPINK1 Specificity 100 % Genes 15 %
Pancreatitis, hereditary (deletion/duplication analysis of PRSS1 and SPINK genes). By CGC Genetics in Portugal. PRSS1, SPINK1 Specificity 100 % Genes 29 %
Pancreatitis, chronic (N34S mutation on SPINK gene and R122H and N29I mutations on PRSS1 gene). By CGC Genetics in Portugal. PRSS1, SPINK1 Specificity 100 % Genes 29 %
Pancreatitis, hereditary (sequence analysis of SPINK1 and PRSS1 genes). By CGC Genetics in Portugal. PRSS1, SPINK1 Specificity 100 % Genes 29 %
SPINK1 related Hereditary Pancreatitis. By Mersey Regional Genetics Laboratories Liverpool Women's Hospital in United Kingdom. SPINK1 Specificity 100 % Genes 15 %
SPINK1-Related Hereditary Pancreatitis. By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands. SPINK1 Specificity 100 % Genes 15 %
Chronic Hereditary Pancreatitis via SPINK1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SPINK1 Specificity 100 % Genes 15 %
Chronic Pancreatitis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CTRC, PRSS1, SPINK1, CASR, CFTR Specificity 100 % Genes 72 %
SPINK1. By Department of Clinical Genetics Odense University Hospital in Denmark. SPINK1 Specificity 100 % Genes 15 %
SPINK1-Related Hereditary Pancreatitis. By MGZ Medical Genetics Center in Germany. SPINK1 Specificity 100 % Genes 15 %
SPINK1-Related Hereditary Pancreatitis. By Bioscientia GmbH Center for Human Genetics in Germany. SPINK1 Specificity 100 % Genes 15 %
Hereditary Pancretitis. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. PRSS1, SPINK1 Specificity 100 % Genes 29 %
Hereditary pancreatitis. By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic. PRSS1, SPINK1, CFTR Specificity 100 % Genes 43 %
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 43 %
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 43 %
Pancreatitis hereditary SPINK1 related. By Centogene AG - the Rare Disease Company in Germany. SPINK1 Specificity 100 % Genes 15 %
Hereditary Pancreatitis. By bio.logis Center for Human Genetics Diagnosticum in Germany. PRSS1, SPINK1, CFTR Specificity 100 % Genes 43 %
Pancreatic cancer Panel. By CeGaT GmbH in Germany. PALLD, PRSS1, SPINK1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 12 % Genes 29 %
Single gene testing SPINK1. By CeGaT GmbH in Germany. SPINK1 Specificity 100 % Genes 15 %
Chronic Pancreatitis. By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India. SPINK1 Specificity 100 % Genes 15 %
Hereditary pancreatitis (SPINK1, PRSS1). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. PRSS1, SPINK1 Specificity 100 % Genes 29 %
Pancreatitis. By Praxis fuer Humangenetik Wien in Austria. SPINK1 Specificity 100 % Genes 15 %
Hereditary pancreatitis. By Department of Clinical Genetics St. Elisabeth Cancer Institute in Slovakia. PRSS1, SPINK1 Specificity 100 % Genes 29 %
Pancreatitis. By MedGene in Slovakia. SPINK1 Specificity 100 % Genes 15 %
Invitae Chronic Pancreatitis Panel. By Invitae in United States. CTRC, PRSS1, SPINK1, CASR, CFTR Specificity 100 % Genes 72 %
Chronic pancreatitis: SPINK1 mutation analysis gene (N34S). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SPINK1 Specificity 100 % Genes 15 %
Chronic pancreatitis: SPINK1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SPINK1 Specificity 100 % Genes 15 %
HEREDITARY PANCREATITIS. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CTRC, PRSS1, SPINK1, CASR, CFTR Specificity 100 % Genes 72 %
Chronic Pancreatitis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CTRC, PRSS1, SPINK1, CASR, CFTR Specificity 100 % Genes 72 %
SPINK1. By Fulgent Genetics Fulgent Genetics in United States. SPINK1 Specificity 100 % Genes 15 %
Hereditary chronic pancreatitis. By Bioarray in Spain. SPINK1 Specificity 100 % Genes 15 %
Mutation Analysis of common mutations for hereditary pancreatitis. By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India. PRSS1, SPINK1 Specificity 100 % Genes 29 %
CHRONIC PANCREATITIS. By Laboratorio de Genetica Clinica SL in Spain. CTRC, PRSS1, SPINK1, CFTR Specificity 100 % Genes 58 %
CHRONIC PANCREATITIS: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. CTRC, PRSS1, SPINK1, CFTR Specificity 100 % Genes 58 %
Hereditary Chronic Pancreatitis , Sequencing SPINK1 Gene. By Reference Laboratory Genetics in Spain. SPINK1 Specificity 100 % Genes 15 %
Hereditary Chronic Pancreatitis , Mutation (N34S) SPINK1 Gene. By Reference Laboratory Genetics in Spain. SPINK1 Specificity 100 % Genes 15 %
Hereditary Pancreatitis , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. PRSS2, CTRC, PRSS1, SPINK1, CFTR Specificity 100 % Genes 72 %
Hereditary pancreatitis. By Labor Dr. Wisplinghoff in Germany. CTRC, PRSS1, SPINK1, CFTR Specificity 100 % Genes 58 %
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 20 % Genes 72 %
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 2 % Genes 86 %
Pancreatitis: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. CTRC, PRSS1, SPINK1, CFTR Specificity 100 % Genes 58 %
Pancreatitis (CTRC) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CTRC Specificity 100 % Genes 15 %
CTRC. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CTRC Specificity 100 % Genes 15 %
CTRC. Detection of the mutations p.Arg254Trp and p.Lys247_Arg254del by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CTRC Specificity 100 % Genes 15 %
Pancreatitis, chronic (sequence analysis of CTRC gene). By CGC Genetics in Portugal. CTRC Specificity 100 % Genes 15 %
Chronic Pancreatitis via Chymotrypsin C (CTRC) Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CTRC Specificity 100 % Genes 15 %
CTRC. By Department of Clinical Genetics Odense University Hospital in Denmark. CTRC Specificity 100 % Genes 15 %
CTRC. By MGZ Medical Genetics Center in Germany. CTRC Specificity 100 % Genes 15 %
Pancreatitis hereditary CTRC related. By Centogene AG - the Rare Disease Company in Germany. CTRC Specificity 100 % Genes 15 %
Single gene testing CTRC. By CeGaT GmbH in Germany. CTRC Specificity 100 % Genes 15 %
Pancreatitis, chronic, susceptibility to:CTRC gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CTRC Specificity 100 % Genes 15 %
CTRC. By Fulgent Genetics Fulgent Genetics in United States. CTRC Specificity 100 % Genes 15 %
Hereditary chronic pancreatitis. By Bioarray in Spain. CTRC Specificity 100 % Genes 15 %
Hereditary Chronic Pancreatitis , Sequencing CTRC Gene. By Reference Laboratory Genetics in Spain. CTRC Specificity 100 % Genes 15 %
Pancreatitis, chronic, protection against. By Centogene AG - the Rare Disease Company in Germany. PRSS2 Specificity 100 % Genes 15 %
PRSS2. By Fulgent Genetics Fulgent Genetics in United States. PRSS2 Specificity 100 % Genes 15 %
Pancreatitis: PRSS1 (Full Gene Sequencing). By Molecular Diagnostic Laboratory LabCorp in United States. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis: PRSS1 (Known Mutation). By Molecular Diagnostic Laboratory LabCorp in United States. PRSS1 Specificity 100 % Genes 15 %
Hereditary Pancreatitis PRSS1. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis (PRSS1) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. PRSS1 Specificity 100 % Genes 15 %
Hereditary Pancreatitis. By Molecular Diagnostic Laboratory University of Alberta in Canada. PRSS1 Specificity 100 % Genes 15 %
PRSS1. Sequencing of the exons 2 and 3. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PRSS1 Specificity 100 % Genes 15 %
PRSS1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PRSS1 Specificity 100 % Genes 15 %
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 1 % Genes 15 %
Hereditary Pancreatic Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PRSS1, SMAD4, BMPR1A, CDKN2A, CDK4, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 6 % Genes 15 %
Pancreatitis, hereditary (sequence analysis of PRSS1 gene). By CGC Genetics in Portugal. PRSS1 Specificity 100 % Genes 15 %
PRSS1 related Hereditary Pancreatitis. By Mersey Regional Genetics Laboratories Liverpool Women's Hospital in United Kingdom. PRSS1 Specificity 100 % Genes 15 %
PRSS1-Related Hereditary Pancreatitis. By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands. PRSS1 Specificity 100 % Genes 15 %
Chronic Hereditary Pancreatitis via PRSS1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PRSS1 Specificity 100 % Genes 15 %
FOX3P. By Department of Clinical Genetics Odense University Hospital in Denmark. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis. By Institute of Human Genetics Cologne University in Germany. PRSS1 Specificity 100 % Genes 15 %
PRSS1-Related Hereditary Pancreatitis. By MGZ Medical Genetics Center in Germany. PRSS1 Specificity 100 % Genes 15 %
PRSS1-Related Hereditary Pancreatitis. By Bioscientia GmbH Center for Human Genetics in Germany. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis hereditary. By Centogene AG - the Rare Disease Company in Germany. PRSS1 Specificity 100 % Genes 15 %
Single gene testing PRSS1. By CeGaT GmbH in Germany. PRSS1 Specificity 100 % Genes 15 %
PRSS1-Related Hereditary Pancreatitis. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis. By Praxis fuer Humangenetik Wien in Austria. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis. By MedGene in Slovakia. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis, Hereditary: PRSS1mutation analysis gene (R122H). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis, Hereditary: PRSS1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis, Hereditary: PRSS1 gene screening. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRSS1 Specificity 100 % Genes 15 %
Pancreatitis, Hereditary: PRSS1 gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PRSS1 Specificity 100 % Genes 15 %
ONCOLOGY, PANEL. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...) View the complete list with 60 more genes Panel GTR000531499 complete gene list POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, KIT, PRSS1, SMARCB1, SMARCA4, TERT, DKC1, FANCB, ERCC3, ERCC2, RAD51D, PMS1, RAD51C, CDC73, PRKAR1A, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN, ATM, NSD1, TSC1, TSC2, BRAF, BLM, FANCC, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, RB1, WT1, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 2 % Genes 15 %
Pancreatic Cancer: Sequencing Panel and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. BAP1, PRSS1, SMAD4, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, APC, BRCA2, BRCA1 Specificity 7 % Genes 15 %
PRSS1 Gene, Full Gene Analysis. By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States. PRSS1 Specificity 100 % Genes 15 %
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 1 % Genes 15 %
PRSS1. By Fulgent Genetics Fulgent Genetics in United States. PRSS1 Specificity 100 % 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 2 % Genes 29 %
Hereditary chronic pancreatitis. By Bioarray in Spain. PRSS1 Specificity 100 % Genes 15 %
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 2 % Genes 15 %
Hereditary Chronic Pancreatitis , Sequencing PRSS1 Gene. By Reference Laboratory Genetics in Spain. PRSS1 Specificity 100 % Genes 15 %
Hereditary Chronic Pancreatitis , Mutation (R122H) PRSS1 Gene. By Reference Laboratory Genetics in Spain. PRSS1 Specificity 100 % Genes 15 %
Hereditary Chronic Pancreatitis , Screening Frequent Mutations PRSS1 Gene. By Reference Laboratory Genetics in Spain. PRSS1 Specificity 100 % Genes 15 %
Hereditary Chronic Pancreatitis , Deletions-Duplications (MLPA) PRSS1 Gene. By Reference Laboratory Genetics in Spain. PRSS1 Specificity 100 % Genes 15 %
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 15 %
Pancreatic Cancer: Gene Deletion/Duplication Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. PRSS1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 8 % Genes 15 %
Pancreatic Cancer: Gene Sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. PRSS1, CDKN2A, STK11, PALB2, ATM, TP53, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 8 % Genes 15 %
Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing Test. By Athena Diagnostics Inc in United States. CASR Specificity 100 % Genes 15 %
CASR DNA Sequencing Test. By Athena Diagnostics Inc in United States. CASR Specificity 100 % Genes 15 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...) View the complete list with 64 more genes Panel GTR000559453 complete gene list 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, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ASPM, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, PHGDH, SLC2A1, PCDH19, CHRNA7, SLC6A8, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, AMT, GLDC, ALG9, SUCLA2, GATM, GAMT, ABAT, LIAS, SLC25A19, ADSL, ALPL Specificity 2 % Genes 15 %
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 15 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...) View the complete list with 125 more genes Panel GTR000525129 complete gene list ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, NECAP1, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, KANSL1, ST3GAL3, SZT2, DOCK7, SLC13A5, SNAP25, HNRNPU, MAGI2, CACNA2D1, MFSD8, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, PRRT2, DEPDC5, TBC1D24, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, PTCH1, TSC1, SYNGAP1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADSL, UBE3A, MTHFR Specificity 1 % Genes 15 %
Epilepsy/Seizure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...) View the complete list with 78 more genes Panel GTR000552213 complete gene list PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1, TSEN54, FLNA, DCX, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, CASR, GCH1, CACNA1A, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, POLG, ADGRV1, MMACHC, ADSL, BTD, UBE3A, MTHFR Specificity 2 % Genes 15 %
Hyperparathyroidism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. AP2S1, GNA11, CDKN1B, PTH1R, CASR, CDC73, MEN1, RET Specificity 13 % Genes 15 %
Hypoparathyroidism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. TBCE, FAM111A, GCM2, PTH, STX16, PDE4D, GNA11, GNAS, GATA3, TBX1, CASR, PRKAR1A, CHD7, AIRE, HADHB, CYP24A1, HADHA Specificity 6 % Genes 15 %
Hypoparathyroidism sequencing panel. By Genetic Services Laboratory University of Chicago in United States. CDH7, TBCE, FAM111A, GCM2, PTH, STX16, PDE4D, GNA11, GNAS, GATA3, TBX1, CASR, PRKAR1A, AIRE, HADHB, CYP24A1, HADHA Specificity 6 % Genes 15 %
Hyperparathyroidism Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. AP2S1, GNA11, CDKN1B, PTH1R, CASR, CDC73, MEN1, RET Specificity 13 % Genes 15 %
ExomePLUS Electrolyte & Kidney Stone. By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. SLC22A12, CLDN19, CLDN16, FAM20A, WNK4, CUL3, GALNT3, AVP, SLC34A3, CLCN5, ENPP1, GCM2, PTH, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, SLC2A2, KLHL3 , (...) View the complete list with 29 more genes Panel GTR000552069 complete gene list SLC22A12, CLDN19, CLDN16, FAM20A, WNK4, CUL3, GALNT3, AVP, SLC34A3, CLCN5, ENPP1, GCM2, PTH, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, SLC2A2, KLHL3, NR3C2, GNAS, GATA3, ATP6V1B1, FGF23, SLC12A1, KCNJ1, CLCNKB, BSND, SCNN1B, SCNN1A, SLC12A3, PHEX, AQP2, AVPR2, HSD11B2, CASR, GRHPR, CTNS, CDC73, VDR, APRT, FAM20C, AGXT, CYP24A1, FAH, CYP11B2, HPRT1, OCRL Specificity 3 % Genes 15 %
CASR-Related Disorders. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. CASR Specificity 100 % Genes 15 %
CASR-Related Familial Isolated Hypoparathyroidism. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. CASR Specificity 100 % Genes 15 %
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. CASR Specificity 100 % Genes 15 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. DMP1, SLC34A3, ENPP1, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, FGF23, PHEX, CASR, PPIB, PLOD2, CRTAP, P3H1, SP7 , (...) View the complete list with 7 more genes Panel GTR000530009 complete gene list DMP1, SLC34A3, ENPP1, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, FGF23, PHEX, CASR, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL Specificity 4 % Genes 15 %
CASR. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CASR Specificity 100 % Genes 15 %
Hyperparathyroidism (sequence analysis of CASR gene). By CGC Genetics in Portugal. CASR Specificity 100 % Genes 15 %
Hypocalciuric hypercalcemia type I (deletion/duplication analysis of CASR gene). By CGC Genetics in Portugal. CASR Specificity 100 % Genes 15 %
Hypocalciuric hypercalcemia type I (sequence analysis of CASR gene). By CGC Genetics in Portugal. CASR Specificity 100 % Genes 15 %
Hypomagnesemia (NGS panel for 17 genes). By CGC Genetics in Portugal. EGF, CNNM2, TRPM6, FXYD2, CLDN19, CLDN16, FAM111A, EGFR, PCBD1, KCNJ10, KCNA1, CLCNKB, BSND, SLC12A3, CASR, SARS2, HNF1B Specificity 6 % Genes 15 %
Hypomagnesemia (NGS panel for 17 genes). By CGC Genetics in Portugal. EGF, CNNM2, TRPM6, FXYD2, CLDN19, CLDN16, FAM111A, EGFR, PCBD1, KCNJ10, KCNA1, CLCNKB, BSND, SLC12A3, CASR, SARS2, HNF1B Specificity 6 % Genes 15 %
Familial benign hypercalcemia. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CASR Specificity 100 % Genes 15 %
Hypocalcemia, autosomal dominant. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CASR Specificity 100 % Genes 15 %
Hypocalcemia, autosomal dominant. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CASR Specificity 100 % Genes 15 %
Hypocalcemia, autosomal dominant. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CASR Specificity 100 % Genes 15 %
Hypocalciuric hypercalcemia, type I. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CASR Specificity 100 % Genes 15 %
Epilepsy, idiopathic generalized, susceptibility to, 8. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CASR Specificity 100 % Genes 15 %
Test for CASR-Related Disorders. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. CASR Specificity 100 % Genes 15 %
CASR-Related Disorders. By Exeter Molecular Genetics Laboratory in United Kingdom. CASR Specificity 100 % Genes 15 %
Hypoparathyroidism Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TBCE, FAM111A, GCM2, PTH, STX16, AP2S1, GNA11, GNAS, SOX3, PTH1R, GATA3, CASR, AIRE, HADHB, HADHA Specificity 7 % Genes 15 %
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AP2S1, GNA11, CASR Specificity 34 % Genes 15 %
Hypercalcemic and Hypocalcemic Disorders via CASR Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CASR Specificity 100 % Genes 15 %
Hypomagnesemia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. EGF, CNNM2, TRPM6, FXYD2, CLDN19, CLDN16, FAM111A, EGFR, PCBD1, KCNJ10, KCNA1, BSND, SLC12A3, CASR, SARS2, HNF1B Specificity 7 % Genes 15 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, HOGA1, ATP6V0A4, SLC4A1, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR, GRHPR, VDR , (...) View the complete list with 10 more genes Panel GTR000551609 complete gene list SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, HOGA1, ATP6V0A4, SLC4A1, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR, GRHPR, VDR, APRT, SLC3A1, CA2, AGXT, XDH, SLC9A3R1, CYP24A1, HPRT1, OCRL, SLC34A1 Specificity 4 % Genes 15 %
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 1 % Genes 15 %
Abnormal mineralization disorders Comprehensive Panel. By Connective Tissue Gene Tests in United States. DMP1, SLC34A3, CLCN5, ENPP1, FGF23, PHEX, CASR, VDR, CYP27B1, SLC9A3R1, FAH, OCRL, SLC34A1, ANKH, ALPL Specificity 7 % Genes 15 %
Abnormal mineralization disorders Deletion/ Duplication Panel. By Connective Tissue Gene Tests in United States. DMP1, SLC34A3, CLCN5, ENPP1, FGF23, PHEX, CASR, VDR, CYP27B1, SLC9A3R1, FAH, OCRL, SLC34A1, ANKH, ALPL Specificity 7 % Genes 15 %
Abnormal mineralization disorders NGS panel. By Connective Tissue Gene Tests in United States. DMP1, SLC34A3, CLCN5, ENPP1, FGF23, PHEX, CASR, VDR, CYP27B1, SLC9A3R1, FAH, OCRL, SLC34A1, ANKH, ALPL Specificity 7 % Genes 15 %
Nephrolithiasis and related disorders NGS panel. By Connective Tissue Gene Tests in United States. SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...) View the complete list with 11 more genes Panel GTR000559186 complete gene list SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR, GRHPR, APRT, SLC3A1, CA2, AGXT, XDH, SLC9A3R1, CYP24A1, HPRT1, OCRL, SLC34A1 Specificity 4 % Genes 15 %
Nephrolithiasis and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...) View the complete list with 11 more genes Panel GTR000559211 complete gene list SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR, GRHPR, APRT, SLC3A1, CA2, AGXT, XDH, SLC9A3R1, CYP24A1, HPRT1, OCRL, SLC34A1 Specificity 4 % Genes 15 %
Nephrolithiasis and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR , (...) View the complete list with 11 more genes Panel GTR000559218 complete gene list SLC26A1, ADCY10, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, AP2S1, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR, GRHPR, APRT, SLC3A1, CA2, AGXT, XDH, SLC9A3R1, CYP24A1, HPRT1, OCRL, SLC34A1 Specificity 4 % Genes 15 %
Bartter syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. MAGED2, GNA11, CLCNKA, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, CASR Specificity 12 % Genes 15 %
Bartter syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. MAGED2, GNA11, CLCNKA, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, CASR Specificity 12 % Genes 15 %
Bartter syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. MAGED2, GNA11, CLCNKA, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, CASR Specificity 12 % Genes 15 %
Hypercalciuric hypercalcemia. By Institute of Human Genetics Cologne University in Germany. CASR Specificity 100 % Genes 15 %
Hypocalcemia with Hypercalciuria. By Institute of Human Genetics Cologne University in Germany. CASR Specificity 100 % Genes 15 %
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 15 %
CASR. By MGZ Medical Genetics Center in Germany. CASR Specificity 100 % Genes 15 %
Nephrology Endocrinology and Electrolytes - panels. By MGZ Medical Genetics Center in Germany. UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...) View the complete list with 97 more genes Panel GTR000552435 complete gene list UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT, SOX17, HPSE2, ETV5, LRIG2, SLC7A9, SEC63, WNK4, CUL3, MYO1E, CLCN5, PAX8, REN, MUC1, CRB2, FRAS1, WNT4, FREM2, GRIP1, APPL1, PRKCSH, HOGA1, SMARCAL1, ITGA3, COQ8B, BMP4, FREM1, BLK, KLF11, PAX4, GREM1, ZIC3, KLHL3, APOL1, DGKE, NOD2, CD2AP, ACE, ACTA2, CLCNKA, MYH9, GATA3, SIX1, SIX5, SALL1, OFD1, KCNJ10, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, ACTN4, SLC12A3, LAMB2, COL4A4, UMOD, INF2, HNF4A, PDX1, INS, ANOS1, CASR, KCNJ11, CEL, WNK1, PKHD1, ABCC8, GRHPR, NPHS1, NPHS2, COL4A3, TSC1, TSC2, GLA, PAX2, LMX1B, SLC3A1, AGXT, COQ2, CYP24A1, COQ6, PDSS2, COQ9, GCK, OCRL, RET, HNF1B, WT1, EYA1, NEUROD1, HNF1A, ALPL, VHL Specificity 1 % Genes 15 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 1 % Genes 15 %
Progressive Myoclonic Epilepsy. By MGZ Medical Genetics Center in Germany. NOL3, MYBPC1, NEU1, ASAH1, SCARB2, GABRA1, EPM2A, KCNC1, GABRD, FOLR1, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, CACNB4, CASR, SGCE, CSTB , (...) View the complete list with 11 more genes Panel GTR000521042 complete gene list NOL3, MYBPC1, NEU1, ASAH1, SCARB2, GABRA1, EPM2A, KCNC1, GABRD, FOLR1, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, CACNB4, CASR, SGCE, CSTB, CLN5, PPT1, CLN6, NPC2, NPC1, CLN3, TPP1, HEXB, HEXA, GLDC, POLG Specificity 4 % Genes 15 %
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 15 %
Epilepsy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...) View the complete list with 192 more genes Panel GTR000521111 complete gene list PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, FTL, TUBB4A, C19orf12, MYBPC1, GMPPB, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, CHD8, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, DPM2, CACNB4, SYNE1, FA2H, SLC33A1, CASR, SGCE, CACNA1A, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, AMACR, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 1 % Genes 15 %
CASR-Related Disorders. By Bioscientia GmbH Center for Human Genetics in Germany. CASR Specificity 100 % Genes 15 %
IGE/JME/CAE panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. BRD2, CLCN2, GABRA1, GABRD, GABRB3, EFHC1, CACNA1H, CACNB4, CASR, SLC2A1, ME2 Specificity 10 % Genes 15 %
Bartter Syndrome panel. By Centogene AG - the Rare Disease Company in Germany. SLC12A7, SLC4A5, SLC12A2, SLC12A5, FXYD2, CLDN19, CLDN16, WNK4, SLC4A1, KLHL3, NR3C2, SLC4A4, CLCNKA, ATP6V1B1, KCNJ10, SLC12A1, KCNJ1, CLCNKB, BSND, SCNN1B , (...) View the complete list with 7 more genes Panel GTR000512783 complete gene list SLC12A7, SLC4A5, SLC12A2, SLC12A5, FXYD2, CLDN19, CLDN16, WNK4, SLC4A1, KLHL3, NR3C2, SLC4A4, CLCNKA, ATP6V1B1, KCNJ10, SLC12A1, KCNJ1, CLCNKB, BSND, SCNN1B, SCNN1G, SCNN1A, SLC12A3, HSD11B2, CASR, WNK1, CA2 Specificity 4 % Genes 15 %
Bartter syndrome CASR related. By Centogene AG - the Rare Disease Company in Germany. CASR Specificity 100 % Genes 15 %
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 15 %
Idiopathic Generalized and Focal Epilepsy Panel. By CeGaT GmbH in Germany. NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD , (...) View the complete list with 20 more genes Panel GTR000522397 complete gene list NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, SLC1A3, CACNB4, KCNA1, CASR, CACNA1A, SCN1A, SLC2A1, ALDH7A1, ME2, AMACR Specificity 3 % Genes 15 %
Bartter Syndrome Panel. By CeGaT GmbH in Germany. GNA11, CLCNKA, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, CASR Specificity 13 % Genes 15 %
Single gene testing CASR. By CeGaT GmbH in Germany. CASR Specificity 100 % Genes 15 %
Skeletal dysplasia with abnormal mineralization Panel. By CeGaT GmbH in Germany. DMP1, SLC34A3, CLCN5, CYP2R1, ENPP1, AP2S1, GNA11, FGF23, PHEX, CASR, VDR, CYP27B1, SLC9A3R1, SLC34A1, ANKH, ALPL Specificity 7 % Genes 15 %
CASR-Related Disorders. By GGA - Galil Genetic Analysis in Israel. CASR Specificity 100 % Genes 15 %
CASR-Related Disorders. By MVZ Dortmund Dr. Eberhard & Partner in Germany. CASR Specificity 100 % Genes 15 %
Familial Hypocalciuric Hypercalcemia. By Asper Biogene Asper Biogene LLC in Estonia. CASR Specificity 100 % Genes 15 %
CASR-Related Disorders. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. CASR Specificity 100 % Genes 15 %
Epilepsy, idiopathic generalized, 8. By Praxis fuer Humangenetik Wien in Austria. CASR Specificity 100 % Genes 15 %
Hyperparathyroidism. By Praxis fuer Humangenetik Wien in Austria. CASR Specificity 100 % Genes 15 %
Hypocalcemia, autosomal dominant. By Praxis fuer Humangenetik Wien in Austria. CASR Specificity 100 % Genes 15 %
Hypocalciuric hypercalcemia, type I. By Praxis fuer Humangenetik Wien in Austria. CASR Specificity 100 % Genes 15 %
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 1 % Genes 15 %
Epilepsy, idiopathic generalized, 8. By MedGene in Slovakia. CASR Specificity 100 % Genes 15 %
Hyperparathyroidism. By MedGene in Slovakia. CASR Specificity 100 % Genes 15 %
Hypocalcemia, autosomal dominant. By MedGene in Slovakia. CASR Specificity 100 % Genes 15 %
Hypocalciuric hypercalcemia, type I. By MedGene in Slovakia. CASR Specificity 100 % Genes 15 %
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 2 % Genes 15 %
Invitae Hyperparathyroidism Panel. By Invitae in United States. CDKN1B, CASR, CDC73, MEN1, RET Specificity 20 % Genes 15 %
Invitae CASR-Related Conditions Test. By Invitae in United States. CASR Specificity 100 % Genes 15 %
Hypercalcemia (FHH), Familial hypocalciuric: CASR gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASR Specificity 100 % Genes 15 %
Hypoparatiroidism, Familial: CASR gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASR Specificity 100 % Genes 15 %
Hypercalcemia (FHH), Familial hypocalciuric: CASR gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASR Specificity 100 % Genes 15 %
Hypocalcemia, autosomal dominant 1: CASR gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASR Specificity 100 % Genes 15 %
Hypocalciuric hypercalcemia: CASR, GNA11, and AP2S1 genes sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AP2S1, GNA11, CASR Specificity 34 % Genes 15 %
Hypoparatiroidism, Familial: CASR gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASR Specificity 100 % Genes 15 %
BARTTER SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SLC12A7, SLC4A5, SLC12A2, SLC12A5, FXYD2, CLDN19, CLDN16, WNK4, SLC4A1, KLHL3, NR3C2, SLC4A4, CLCNKA, ATP6V1B1, KCNJ10, SLC12A1, KCNJ1, CLCNKB, BSND, SCNN1B , (...) View the complete list with 7 more genes Panel GTR000531420 complete gene list SLC12A7, SLC4A5, SLC12A2, SLC12A5, FXYD2, CLDN19, CLDN16, WNK4, SLC4A1, KLHL3, NR3C2, SLC4A4, CLCNKA, ATP6V1B1, KCNJ10, SLC12A1, KCNJ1, CLCNKB, BSND, SCNN1B, SCNN1G, SCNN1A, SLC12A3, HSD11B2, CASR, WNK1, CA2 Specificity 4 % Genes 15 %
Epilepsy and Seizure Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 90 more genes Panel GTR000512416 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, CYP27A1, NDUFA1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 1 % Genes 15 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MAFB, MMP2, DMP1, SLC34A3, CLCN5, ENPP1, NOTCH2, TREM2, GORAB, SERPINH1, GNAS, ZMPSTE24, ANO5, FGF23, PHEX, CASR, LMNA, PPIB, PLOD2, CRTAP , (...) View the complete list with 14 more genes Panel GTR000512609 complete gene list MAFB, MMP2, DMP1, SLC34A3, CLCN5, ENPP1, NOTCH2, TREM2, GORAB, SERPINH1, GNAS, ZMPSTE24, ANO5, FGF23, PHEX, CASR, LMNA, PPIB, PLOD2, CRTAP, P3H1, SP7, ATP6V0A2, PYCR1, TNFRSF11A, COL1A2, COL1A1, LRP5, IFITM5, B4GALT7, FKBP10, TYROBP, ANKH, ALPL Specificity 3 % Genes 15 %
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 15 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 87 more genes Panel GTR000558825 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, TBC1D24, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 1 % Genes 15 %
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 1 % Genes 15 %
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 15 %
CASR. By Fulgent Genetics Fulgent Genetics in United States. CASR Specificity 100 % Genes 15 %
Idiopathic Generalized Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1 , (...) View the complete list with 69 more genes Panel GTR000531698 complete gene list NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1, CNTNAP2, TCF4, KCNJ10, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, DNAJC5, SRPX2, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, GPC3, SMC1A, SYNGAP1, SLC2A1, PLP1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, STXBP1, MECP2, ME2, HSD17B10, ADSL, UBE3A Specificity 2 % Genes 15 %
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 1 % Genes 15 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR Specificity 1 % Genes 15 %
Hyperparathyroidism Panel. By Blueprint Genetics in Finland. CDKN1A, CDKN2C, CDKN2B, GCM2, PTH, AP2S1, GNA11, CDKN1B, CASR, CDC73, AIRE, MEN1, RET Specificity 8 % Genes 15 %
Hypomagnesemia Panel. By Blueprint Genetics in Finland. NIPA2, EGF, CNNM2, TRPM6, FXYD2, CLDN19, CLDN16, FAM111A, PCBD1, CNNM4, MAGT1, KCNJ10, KCNA1, CLCNKB, BSND, SLC12A3, CASR, SARS2, HNF1B Specificity 6 % Genes 15 %
Bartter Syndrome Panel. By Blueprint Genetics in Finland. AP2S1, GNA11, CLCNKA, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, CASR Specificity 12 % Genes 15 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE Specificity 1 % Genes 15 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT, SLC12A5, GLRB, DHFR, FAM126A, CERS1, APOPT1, POLR3B, POLR3A, LMNB1, FGF12, RNF216, RARS, ECHS1, GNB1, UBA5, TBCD, SERAC1, TBCE, PYCR2, CC2D1A, GRIK2, SLC25A1, IBA57, ASNS, HEPACAM, DDC, EARS2, SLC46A1, CSF1R, SCO1, MARS2, CTC1, RNASET2, PGK1, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, HACE1, MTOR, CLCN2, NECAP1, CLCN4, TAF1, UBE2A, NEU1, MED12, SOX10, HTRA1, VPS13A, GFAP, TREX1, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, ARHGEF9, GRIA3, PHF6, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, PIGN, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, HNRNPU, MAGI2, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, RELN, DCX, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, CACNB4, KCNA1, FA2H, KIF1A, CASR, GCH1, CACNA1A, NOTCH3, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, DPYD, EIF2B5, CLN5, SUMF1, MLC1, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PLP1, PCDH19, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, ARX, ASPA, ARSA, AGA, MTFMT, SLC6A8, FARS2, WWOX, CLN3, TPP1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, HIBCH, NDUFAF5, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, COX15, QDPR, PTS, ALDH7A1, ALDH3A2, ALDH5A1, SUOX, ABCD1, SLC9A6, AIFM1, D2HGDH, ETHE1, AMT, GLDC, GRN, GFM1, SLC25A22, CTSD, DARS2, STXBP1, GAMT, ABAT, NUBPL, TTC19, NFU1, DNM1L, MECP2, FH, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, HSD17B10, GNE, PRODH, GLB1, PSAP, CPT2, AMACR, ADSL, BTD, ARG1, UBE3A, MTHFR, HTT Specificity 1 % Genes 15 %
Idiopathic Generalized and Focal Epilepsy Panel. By Blueprint Genetics in Finland. MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B , (...) View the complete list with 14 more genes Panel GTR000552780 complete gene list MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, CACNB4, KCNA1, CASR, SCN1A, SLC2A1, ALDH7A1, POLG, AMACR Specificity 3 % Genes 15 %
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 1 % Genes 15 %
Skeletal Dysplasia with Abnormal Mineralization Panel. By Blueprint Genetics in Finland. SNX10, GALNT3, SLC34A3, CLCN5, ENPP1, PTDSS1, MGP, PLS3, SOX9, FGF23, PHEX, CASR, VDR, COL5A2, COL5A1, TNFRSF11B, PPIB, CYP27B1, PLOD2, CRTAP , (...) View the complete list with 12 more genes Panel GTR000552636 complete gene list SNX10, GALNT3, SLC34A3, CLCN5, ENPP1, PTDSS1, MGP, PLS3, SOX9, FGF23, PHEX, CASR, VDR, COL5A2, COL5A1, TNFRSF11B, PPIB, CYP27B1, PLOD2, CRTAP, P3H1, SLC39A13, SERPINF1, FBN1, TNFRSF11A, COL3A1, COL1A2, COL1A1, B4GALT7, FKBP10, ANKH, ALPL Specificity 4 % Genes 15 %
Nephrolithiasis Panel. By Blueprint Genetics in Finland. MOCOS, SLC26A1, ADCY10, GPHN, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A , (...) View the complete list with 15 more genes Panel GTR000561514 complete gene list MOCOS, SLC26A1, ADCY10, GPHN, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, FAM20A, SLC34A3, CLCN5, HOGA1, ATP6V0A4, SLC4A1, GNA11, ATP6V1B1, SLC12A1, KCNJ1, HNF4A, CASR, GRHPR, VDR, APRT, SLC3A1, MOCS1, CA2, AGXT, XDH, SLC9A3R1, CYP24A1, HPRT1, OCRL, SLC34A1, ALPL Specificity 3 % Genes 15 %
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 1 % Genes 15 %
Familial hypocalciuric hypercalcemia. By Bioarray in Spain. CASR Specificity 100 % Genes 15 %
HYPOCALCEMIA (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. GNA11, CASR Specificity 50 % Genes 15 %
HYPOPARATHYROIDISM. By Laboratorio de Genetica Clinica SL in Spain. GCM2, PTH, GNA11, CASR Specificity 25 % Genes 15 %
FAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 1. By Laboratorio de Genetica Clinica SL in Spain. CASR Specificity 100 % Genes 15 %
Autosomal Dominant Hypocalcemia , Sequencing CASR Gene. By Reference Laboratory Genetics in Spain. CASR Specificity 100 % Genes 15 %
Familial Hypocalciuric Hypercalcemia(HBF), Sequencing CASR Gene. By Reference Laboratory Genetics in Spain. CASR Specificity 100 % Genes 15 %
Familial Hypoparathyroidism , Sequencing CASR Gene. By Reference Laboratory Genetics in Spain. CASR Specificity 100 % Genes 15 %
Familial Hypocalciuric Hypercalcemia (FHH) Type 1 , Deletions-Duplications (MLPA) CASR Gene. By Reference Laboratory Genetics in Spain. CASR Specificity 100 % Genes 15 %
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes. By Reference Laboratory Genetics in Spain. FXYD2, CLDN19, CLDN16, WNK4, SLC4A1, KLHL3, NR3C2, CLCNKA, ATP6V1B1, KCNJ10, SLC12A1, KCNJ1, CLCNKB, BSND, SCNN1B, SCNN1G, SCNN1A, SLC12A3, HSD11B2, CASR , (...) View the complete list with 2 more genes Panel GTR000559706 complete gene list FXYD2, CLDN19, CLDN16, WNK4, SLC4A1, KLHL3, NR3C2, CLCNKA, ATP6V1B1, KCNJ10, SLC12A1, KCNJ1, CLCNKB, BSND, SCNN1B, SCNN1G, SCNN1A, SLC12A3, HSD11B2, CASR, WNK1, CA2 Specificity 5 % Genes 15 %
Familial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes. By Reference Laboratory Genetics in Spain. AP2S1, GNA11, CASR Specificity 34 % Genes 15 %
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes. By Reference Laboratory Genetics in Spain. EGF, CNNM2, TRPM6, FXYD2, CLDN19, CLDN16, PCBD1, KCNJ10, KCNA1, CLCNKB, SLC12A3, CASR, SARS2, HNF1B Specificity 8 % Genes 15 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes. By Reference Laboratory Genetics in Spain. KL, GALNT3, DMP1, SLC34A3, CLCN5, CYP2R1, ENPP1, EPHX1, BAAT, ATP6V0A4, SLC4A1, ABCC6, PTH1R, TJP2, FGF23, PHEX, HNF4A, CASR, CTNS, VDR , (...) View the complete list with 8 more genes Panel GTR000559979 complete gene list KL, GALNT3, DMP1, SLC34A3, CLCN5, CYP2R1, ENPP1, EPHX1, BAAT, ATP6V0A4, SLC4A1, ABCC6, PTH1R, TJP2, FGF23, PHEX, HNF4A, CASR, CTNS, VDR, FAM20C, CYP27B1, SLC9A3R1, FAH, OCRL, SLC34A1, ANKH, ALPL Specificity 4 % Genes 15 %
Hypocalcemia, autosomal dominant 1. By Labor Dr. Wisplinghoff in Germany. CASR Specificity 100 % Genes 15 %
Neonatal severe hyperparathyroidism. By Labor Dr. Wisplinghoff in Germany. CASR Specificity 100 % Genes 15 %
Hypocalciuric hypercalcemia, familial, type 1. By Labor Dr. Wisplinghoff in Germany. CASR Specificity 100 % Genes 15 %
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 2 % Genes 15 %
Ashkenazic Genetic Disease Panel. By Baylor Miraca Genetics Laboratories in United States. CFTR, ELP1, ASPA, HEXA Specificity 25 % Genes 15 %
CFTR - 5T Variant Analysis. By Baylor Miraca Genetics Laboratories in United States. CFTR Specificity 100 % Genes 15 %
CFTR Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CFTR Specificity 100 % Genes 15 %
CFTR Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. CFTR Specificity 100 % Genes 15 %
CFTR Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. CFTR Specificity 100 % Genes 15 %
CFTR Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. CFTR Specificity 100 % Genes 15 %
CFTR Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. CFTR Specificity 100 % Genes 15 %
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...) View the complete list with 139 more genes Panel GTR000553929 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, OTC, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, MECP2, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, OCRL, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A, FMR1 Specificity 1 % Genes 15 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...) View the complete list with 129 more genes Panel GTR000553930 complete gene list TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CTNS, NEB, HBA2, MTTP, FKTN, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC22A5, CYP27A1, ASS1, LRPPRC, GALT, GCDH, CBS, SLC25A15, IVD, GALC, MAN2B1, DBT, SGSH, CHAT, CPT1A, AGXT, PAH, PTS, CTSK, HEXB, ALDH3A2, HEXA, MYO7A, ETHE1, MPI, AMT, GLDC, PCCA, PCCB, G6PC, HMGCL, FAH, DHDDS, HPS3, CDH23, SLC26A4, SMPD1, FH, HADHA, SLC25A13, POLG, DLD, PCDH15, USH2A, CLRN1, NPHP1, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, LAMB3, BTD, ALPL, USH1C, PC, ALDOB, ACADVL, AGL, ACADM, UBE3A Specificity 1 % Genes 15 %
GeneAware Basic Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. HBA2, HBA1, SMN1, DMD, CFTR, HBB, FMR1 Specificity 15 % Genes 15 %
GeneAware Basic Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. HBA2, HBA1, SMN1, CFTR, HBB Specificity 20 % Genes 15 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA , (...) View the complete list with 19 more genes Panel GTR000553933 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, ATP7B, FMR1 Specificity 3 % Genes 15 %
GeneAware ACMG/ACOG Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. MCOLN1, HBA2, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1, HBB Specificity 8 % Genes 15 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC , (...) View the complete list with 17 more genes Panel GTR000553935 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, ATP7B Specificity 3 % Genes 15 %
GeneAware ACMG/ACOG Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. MCOLN1, HBA2, HBA1, SMN1, DMD, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1, HBB, FMR1 Specificity 7 % Genes 15 %
Cystic Fibrosis. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. CFTR Specificity 100 % Genes 15 %
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40 , (...) View the complete list with 73 more genes Panel GTR000556317 complete gene list SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, CSF2RB, EFEMP2, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, CSF2RA, DRC1, SMAD9, CAV1, KCNK3, ZMYND10, ARMC4, RSPH1, DNAAF4, CFAP298, CCDC65, SPAG1, GDF2, DOCK8, CCNO, CCDC151, CENPF, PARN, RSPH3, GAS8, DNAJB13, TTC25, SFTPD, TERT, MCIDAS, DNAH1, ELMOD2, DNAH8, BMPR1B, ACVRL1, TERC, BLOC1S6, DKC1, EDN3, OFD1, SCNN1B, SCNN1G, SCNN1A, RTEL1, SLC7A7, SERPINA1, ENG, SMAD4, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, ALMS1, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, RPGR, DTNBP1, ELN, FBLN5, INVS Specificity 2 % Genes 15 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1 , (...) View the complete list with 22 more genes Panel GTR000556372 complete gene list 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, CENPF, RSPH3, GAS8, DNAJB13, TTC25, MCIDAS, DNAH1, DNAH8, OFD1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 15 %
Cystic Fibrosis. By Center for Human Genetics, Inc in United States. CFTR Specificity 100 % Genes 15 %
CFTR NextGen Sequencing with reflex to deletion/duplication analysis. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. CFTR Specificity 100 % Genes 15 %
CFTR Gene Analysis: Del-Dup Targeted Exonic Microarray. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. CFTR Specificity 100 % Genes 15 %
Test for CFTR-Related Disorders. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis and CF-Related Disorders NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. CA12, SCNN1B, SCNN1G, SCNN1A, CFTR Specificity 20 % Genes 15 %
Cystic Fibrosis. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis: CFTR linkage analysis. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Center for Genetics at Saint Francis Saint Francis Hospital in United States. CFTR Specificity 100 % Genes 15 %
CFTR-related disorders. By Molecular Diagnostic Laboratory Diagnostic Services of Manitoba, Health Sciences Centre site in Canada. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Mutation Analysis. By Molecular Pathology Laboratory University of Pennsylvania Health System in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Screening. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis, Sequencing. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis, Sequencing and Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis, Deletion/Duplication. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CFTR Specificity 100 % Genes 15 %
Ciliopathies. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...) View the complete list with 73 more genes Panel GTR000552165 complete gene list EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, NODAL, WDR35, OFD1, PKD2, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, VHL Specificity 2 % Genes 15 %
CFTR Targeted Mutation Analysis for Cystic Fibrosis. By Molecular Diagnostics Laboratory Duke University Health System in United States. CFTR Specificity 100 % Genes 15 %
CFTR-related disorders. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CF) Profile, 32 Mutations, DNA Analysis. By Molecular Diagnostic Laboratory LabCorp in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CF) Profile, 32 Mutations, Fetal Analysis. By Molecular Diagnostic Laboratory LabCorp in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CF) Profile, 97 Mutation, CFplus. By Molecular Diagnostic Laboratory LabCorp in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CF) Profile, 97 Mutations, CFplus, Fetal Analysis. By Molecular Diagnostic Laboratory LabCorp in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CF): CFTR Deletion/Duplication Analysis. By Molecular Diagnostic Laboratory LabCorp in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CFTR) Sequencing. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. CFTR Specificity 100 % Genes 15 %
CFTR related to idiopathic pancreatitis. By Genetics Laboratory University of Oklahoma Health Sciences Center in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation in United States. CFTR Specificity 100 % Genes 15 %
Pancreatic Insufficiency Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. UBR1, CEL, SBDS, CFTR Specificity 25 % Genes 15 %
Cystic Fibrosis Mutation and Cystic Fibrosis Prenatal. By United States Air Force Molecular Diagnostic Laboratory United States Air Force in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Michigan State University Clinical Genetics Laboratory Michigan State University in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Institute of Human Genetics Universitätsmedizin Greifswald in Germany. CFTR Specificity 100 % Genes 15 %
CFTR. By Institute for Human Genetics University Clinic Freiburg in Germany. CFTR Specificity 100 % Genes 15 %
Bronchiectasis Panel (17 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, RSPH1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39 Specificity 6 % Genes 15 %
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 15 %
Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CFTR) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CFTR) Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CFTR) 165 Pathogenic Variants, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing and Reflex to Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CFTR) 165 Pathogenic Variants. By ARUP Laboratories, Molecular Genetics and Genomics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Molecular Diagnostic Laboratory Nebraska Medicine in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Molecular Diagnostic Laboratory University of Alberta in Canada. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom. CFTR Specificity 100 % Genes 15 %
CFTR 508FIRST reflex gene sequence and deletion/duplication. By Ambry Genetics in United States. CFTR Specificity 100 % Genes 15 %
CFTR gene sequence and deletion/duplication. By Ambry Genetics in United States. CFTR Specificity 100 % Genes 15 %
PCDNext. By Ambry Genetics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ARMC4, SPAG1, OFD1, CFTR, CCDC39 , (...) View the complete list with 1 more genes Panel GTR000560619 complete gene list DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, ARMC4, SPAG1, OFD1, CFTR, CCDC39, RPGR Specificity 5 % Genes 15 %
CFTR. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CFTR Specificity 100 % Genes 15 %
CFTR. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CFTR Specificity 100 % Genes 15 %
CFTR. Detection of the polymorphism poli-T associated to male infertility. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CFTR Specificity 100 % Genes 15 %
CFTR. Detection of frequent mutations (>1%) in the Spanish population. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CFTR Specificity 100 % Genes 15 %
CFTR. Detection of the mutation p.Phe508del by Real Time PCR. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CFTR Specificity 100 % Genes 15 %
CFTR-Related Disorders. By CIBIC S.A. in Argentina. CFTR Specificity 100 % Genes 15 %
CFTR Seq + Del/Dup Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CFTR Specificity 100 % Genes 15 %
CFTR Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CFTR Specificity 100 % Genes 15 %
CFTR Del/Dup Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. CFTR Specificity 100 % Genes 15 %
Cholestasis Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. MYO5B, NR1H4, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, TJP2, SERPINA1, NPC2, NPC1, LIPA, CFTR, SLC25A13, JAG1, ATP8B1, ABCB4 , (...) View the complete list with 1 more genes Panel GTR000553459 complete gene list MYO5B, NR1H4, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, TJP2, SERPINA1, NPC2, NPC1, LIPA, CFTR, SLC25A13, JAG1, ATP8B1, ABCB4, ABCB11 Specificity 5 % Genes 15 %
Primary Ciliary Dyskinesia Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553461 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 15 %
Congenital Diarrhea Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...) View the complete list with 1 more genes Panel GTR000553462 complete gene list SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM Specificity 5 % Genes 15 %
Primary Ciliary Dyskinesia Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553475 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 15 %
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 15 %
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 15 %
Primary Ciliary Dyskinesia Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 17 more genes Panel GTR000553487 complete gene list HYDIN, DNAH6, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10, ARMC4, RSPH1, DNAAF4, CCDC65, SPAG1, CCNO, CCDC151, RSPH3, GAS8, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 15 %
Cholestasis Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. MYO5B, NR1H4, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, TJP2, SERPINA1, NPC2, NPC1, LIPA, CFTR, SLC25A13, JAG1, ATP8B1, ABCB4 , (...) View the complete list with 1 more genes Panel GTR000553489 complete gene list MYO5B, NR1H4, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, TJP2, SERPINA1, NPC2, NPC1, LIPA, CFTR, SLC25A13, JAG1, ATP8B1, ABCB4, ABCB11 Specificity 5 % Genes 15 %
Congenital Diarrhea Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...) View the complete list with 1 more genes Panel GTR000553495 complete gene list SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM Specificity 5 % Genes 15 %
Congenital Diarrhea Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...) View the complete list with 1 more genes Panel GTR000553500 complete gene list SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM Specificity 5 % Genes 15 %
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 15 %
Cystic Fibrosis. By PerkinElmer Genetics, Inc. in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Molecular Pathology New York Presbyterian Hospital - Weill Cornell Medical Center in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By ChildLab Molecular Genetics Laboratory Nationwide Children's Hospital in United States. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By CGC Genetics in Portugal. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis (sequence analysis of CFTR gene). By CGC Genetics in Portugal. CFTR Specificity 100 % Genes 15 %
Pancreatitis idiopathic (sequence analysis of CFTR gene). By CGC Genetics in Portugal. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis (deletion/duplication analisis on CFTR gene). By CGC Genetics in Portugal. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis (frequent mutations of CFTR gene). By CGC Genetics in Portugal. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis (?F508 mutation of CFTR gene). By CGC Genetics in Portugal. CFTR Specificity 100 % Genes 15 %
cystic fibrosis, 50 European disease mutations. By Laboratory of Genetics HUSLAB in Finland. CFTR Specificity 100 % Genes 15 %
CYSTIC FIBROSIS. By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Exeter Molecular Genetics Laboratory in United Kingdom. CFTR Specificity 100 % Genes 15 %
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PIH1D3, AK7, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 20 more genes Panel GTR000505674 complete gene list PIH1D3, AK7, 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, DNAJB13, TTC25, MCIDAS, DNAH1, DNAH8, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 15 %
Cystic Fibrosis and CF-Related Disorders via CFTR Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CFTR Specificity 100 % Genes 15 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...) View the complete list with 73 more genes Panel GTR000505776 complete gene list ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, NKX2-5, 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, DNAH8, FOXH1, NODAL, TMEM231, DCDC2, OFD1, AHI1, TMEM216, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, IQCB1, CCDC39, RPGR, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, CC2D2A, INPP5E, INVS Specificity 2 % Genes 15 %
Male Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...) View the complete list with 86 more genes Panel GTR000553213 complete gene list GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141, AXL, HS6ST1, SPRY4, DUSP6, FLRT3, CATSPER1, NANOS1, AURKC, PICK1, SPATA16, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, AMHR2, AMH, MAMLD1, FEZF1, RSPO1, NSMF, MAP3K1, WNT4, SEMA3A, DHH, IL17RD, CYP19A1, GATA4, SRD5A2, LHX3, LHX4, HSD17B3, ADGRG2, NR5A1, SYCP3, DNAH1, SOX9, POR, SOX3, SEMA3E, SOX10, ATRX, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, LHCGR, FGFR1, GNRH1, NR0B1, PROP1, FGFR2, SRY, PCSK1, LEPR, LEP, CHD7, CFTR, ARX, AR, AIRE, WWOX, HESX1, CYP17A1, SOX2, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7, CYP11A1, TRIM32, TTC8, MKKS, ARL6, WT1, STAR, FOXL2, HFE Specificity 1 % Genes 15 %
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 15 %
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 15 %
Cystic fibrosis. By Institute of Human Genetics Cologne University in Germany. CFTR Specificity 100 % Genes 15 %
CFTR-Related Disorders. By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada. CFTR Specificity 100 % Genes 15 %
CFTR-Related Disorders. By MGZ Medical Genetics Center in Germany. CFTR Specificity 100 % Genes 15 %
CFTR-Related Hereditary Pancreatitis. By MGZ Medical Genetics Center in Germany. CFTR Specificity 100 % Genes 15 %
Pulmonary diseases - panels. By MGZ Medical Genetics Center in Germany. TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4 , (...) View the complete list with 11 more genes Panel GTR000552432 complete gene list TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4, CCNO, BMPR1B, ACVRL1, NOTCH1, COL4A1, CAV3, NOTCH3, ENG, CFTR, SARS2, ELN Specificity 4 % Genes 15 %
Hepatic and pancreatic diseases - panels. By MGZ Medical Genetics Center in Germany. UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS , (...) View the complete list with 49 more genes Panel GTR000552436 complete gene list UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX14, TJP2, PEX6, CYP7B1, TMEM216, PKHD1, PEX1, SERPINA1, PEX7, PEX2, NPC2, NPC1, LIPA, DHCR7, CFTR, CPOX, PPOX, FECH, MKS1, CYP27A1, ASS1, GALT, MPV17, FAH, DGUOK, SMPD1, SLC25A13, ALAS2, POLG, NPHP4, NPHP1, NPHP3, JAG1, CC2D2A, TRMU, HNF1B, INVS, ATP8B1, ATP7B, ABCB4, ABCB11, HFE Specificity 2 % Genes 15 %
CFTR-Related Disorders. By Bioscientia GmbH Center for Human Genetics in Germany. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By GeneTech ATS GeneTech Private Limited in India. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc. in Canada. CFTR Specificity 100 % Genes 15 %
Ashkenazi panel (advanced). By Centogene AG - the Rare Disease Company in Germany. ABCC8, MCOLN1, NEB, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, DLD, PCDH15, CLRN1, BCKDHB Specificity 7 % Genes 15 %
Pancreatitis hereditary CFTR related. By Centogene AG - the Rare Disease Company in Germany. CFTR Specificity 100 % Genes 15 %
Comprehensive pulmonary disease panel. By Centogene AG - the Rare Disease Company in Germany. GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...) View the complete list with 46 more genes Panel GTR000552605 complete gene list GDNF, ASCL1, BDNF, NOP10, 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, PARN, SFTPD, TERT, ELMOD2, ACVRL1, TERC, BLOC1S6, DKC1, EDN3, SCNN1B, SCNN1G, SCNN1A, RTEL1, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, TINF2, FOXF1, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, FBN1, DTNBP1, ELN, RET, FBLN5 Specificity 2 % Genes 15 %
CFTR Gene Sequencing. By Michigan Medical Genetics Laboratories University of Michigan in United States. CFTR Specificity 100 % Genes 15 %
CFTR deletion/duplication analysis. By Michigan Medical Genetics Laboratories University of Michigan in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Diagnostic Mutation. By Michigan Medical Genetics Laboratories University of Michigan in United States. CFTR Specificity 100 % Genes 15 %
CFTR-Related Disorders. By bio.logis Center for Human Genetics Diagnosticum in Germany. CFTR Specificity 100 % Genes 15 %
Azoospermia. By bio.logis Center for Human Genetics Diagnosticum in Germany. CFTR Specificity 100 % Genes 15 %
Single gene testing CFTR. By CeGaT GmbH in Germany. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India. CFTR Specificity 100 % Genes 15 %
Test for CFTR-Related Disorders. By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CF). By Laboratory of Human Genetics GENOMED Health Care Center in Poland. CFTR Specificity 100 % Genes 15 %
CFTR-related disorders. By MVZ Dortmund Dr. Eberhard & Partner in Germany. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Asper Biogene Asper Biogene LLC in Estonia. CFTR Specificity 100 % Genes 15 %
Ashkenazi Jewish diseases. By Asper Biogene Asper Biogene LLC in Estonia. F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...) View the complete list with 17 more genes Panel GTR000507864 complete gene list F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA, MAK, BBS2, HEXA, LCA5, G6PC, FAM161A, DHDDS, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, AGL, MSH6, MSH2, BRCA2, BRCA1 Specificity 3 % Genes 15 %
Male Factor Infertility. By Asper Biogene Asper Biogene LLC in Estonia. RXFP2, XIST, DDX25, ESR2, NLRP14, PRDM9, PRM1, PRM2, PRM3, RBMXL2, TEKT2, USP26, UTP14C, INSL3, FSHB, DNAI1, DNAH5, DNAH11, GNRHR, CFTR , (...) View the complete list with 1 more genes Panel GTR000520059 complete gene list RXFP2, XIST, DDX25, ESR2, NLRP14, PRDM9, PRM1, PRM2, PRM3, RBMXL2, TEKT2, USP26, UTP14C, INSL3, FSHB, DNAI1, DNAH5, DNAH11, GNRHR, CFTR, FMR1 Specificity 5 % Genes 15 %
Cystic Fibrosis. By Cytogenetics and Molecular Genetics Laboratory Mercy St. Vincent Medical Center in United States. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis, CFTR sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. CFTR Specificity 100 % Genes 15 %
CFTR-Related Disorders. By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA in United States. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis and congenital bilateral aplasia of Vas Deferens (CFTR sequencing). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis and congenital bilateral aplasia of Vas Deferens (CFTR). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Department of Laboratory Medicine P.D. Hinduja National Hospital - MRC in India. CFTR Specificity 100 % Genes 15 %
Congenital bilateral absence of vas deferens. By Praxis fuer Humangenetik Wien in Austria. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By Praxis fuer Humangenetik Wien in Austria. CFTR Specificity 100 % Genes 15 %
CFTR Gene Sequencing. By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. CFTR Specificity 100 % Genes 15 %
CFTR p.F508del Mutation Detection. By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. CFTR Specificity 100 % Genes 15 %
CFTR Target Mutation Analysis. By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. CFTR Specificity 100 % Genes 15 %
CFTR. By Division Human Genetics Medical University Innsbruck in Austria. CFTR Specificity 100 % Genes 15 %
Family Prep Screen. By Counsyl in United States. BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...) View the complete list with 90 more genes Panel GTR000552033 complete gene list BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, HBA2, FKTN, LAMB3, HBA1, CLN8, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, AGA, CLN3, TPP1, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, CPT1A, AGXT, PAH, CTSK, ALDH3A2, HEXA, MPI, G6PC, FAH, RS1, SLC26A4, SMPD1, OPA3, HADHA, DLD, PCDH15, CLRN1, CNGB3, GNE, CPT2, HSD17B4, SLC37A4, CHM, HBB, GAA, BCS1L, BCKDHB, ATP7B, BTD, ALPL, ALDOB, ACADVL, AGL, ACADS, ACADM, MTHFR, HFE, FMR1, F5, F2 Specificity 1 % Genes 15 %
Cystic Fibrosis Carrier Screening. By BayCare Laboratories, LLC BayCare Health System in United States. CFTR Specificity 100 % Genes 15 %
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 15 %
Congenital bilateral absence of vas deferens. By MedGene in Slovakia. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis. By MedGene in Slovakia. CFTR Specificity 100 % Genes 15 %
Invitae Cystic Fibrosis Newborn Screening Confirmation Test. By Invitae in United States. CFTR Specificity 100 % Genes 15 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel. By Invitae in United States. PPM1K, FTCD, SERAC1, GSS, HADH, PCBD1, MAT1A, CD320, HCFC1, GCH1, G6PD, IDUA, GLA, CFTR, HPD, GNMT, AHCY, ABCD4, ASL, SLC25A20 , (...) View the complete list with 70 more genes Panel GTR000551778 complete gene list PPM1K, FTCD, SERAC1, GSS, HADH, PCBD1, MAT1A, CD320, HCFC1, GCH1, G6PD, IDUA, GLA, CFTR, HPD, GNMT, AHCY, ABCD4, ASL, SLC25A20, SLC22A5, ASS1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, CBS, NAGS, SLC25A15, ALDH4A1, IVD, SUCLG1, MLYCD, DBT, MUT, MMAA, MMAB, MCEE, CPT1A, OAT, PAH, QDPR, PTS, LMBRD1, MMADHC, ABCD1, TAZ, OTC, ETHE1, PCCA, PCCB, HADHB, ACADSB, DNAJC19, ACAD8, SUCLA2, SPR, TAT, HMGCL, FAH, TMEM70, ACSF3, SMPD1, OPA3, HADHA, SLC25A13, HSD17B10, PRODH, CPT2, CPS1, MTRR, MTR, MMACHC, GAA, BCKDHB, BCKDHA, AUH, BTD, HLCS, ARG1, PC, ACAT1, ACADVL, ACADS, ACADM, MCCC2, MCCC1 Specificity 2 % Genes 15 %
Invitae Cystic Fibrosis Test. By Invitae in United States. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis: CFTR gene mutation analysis (?F508). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis: CFTR gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis: CFTR gene deletions-duplications analysis (MLPA). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis: CFTR gene mutations analysis (54 mutations). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CFTR Specificity 100 % Genes 15 %
CFTR - Gene Sequencing & Del/Dup analysis. By Genome Diagnostics VU University Medical Center in Netherlands. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis: CFTR Common Mutation Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis: CFTR Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis: CFTR Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CFTR Specificity 100 % Genes 15 %
Infertility Panel: Male (Chromosomes, Cystic Fibrosis Common Mutations, Y-Microdeletion). By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CFTR Specificity 100 % Genes 15 %
Ciliopathies: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...) View the complete list with 92 more genes Panel GTR000512415 complete gene list HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, WDR35, TMEM231, OFD1, PKD2, SCNN1B, SCNN1G, SCNN1A, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, AIPL1, VHL Specificity 1 % Genes 15 %
Bronchiectasis: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39 Specificity 7 % Genes 15 %
Pulmonary Disease: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1 , (...) View the complete list with 33 more genes Panel GTR000512610 complete gene list GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, EFEMP2, CSF2RA, SMAD9, DOCK8, SFTPD, TERT, ELMOD2, ACVRL1, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, CFTR, STAT3, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, ELN, RET, FBLN5 Specificity 2 % Genes 15 %
Neonatal and Adult Cholestasis: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3 , (...) View the complete list with 37 more genes Panel GTR000512639 complete gene list SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, TJP2, PEX6, CYP7B1, TMEM216, PKHD1, PEX1, UGT1A1, SERPINA1, PEX7, PEX2, NPC2, NPC1, LIPA, DHCR7, CFTR, MKS1, CYP27A1, MPV17, FAH, DGUOK, SMPD1, SLC25A13, POLG, NPHP4, NPHP1, NPHP3, JAG1, CC2D2A, TRMU, HNF1B, INVS, ATP8B1, ABCB4, ABCB11 Specificity 2 % Genes 15 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...) View the complete list with 127 more genes Panel GTR000523283 complete gene list HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2, CLN5, CAPN3, ABCC8, TTPA, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, HBA2, G6PD, FKTN, LAMB3, HBA1, CLN8, NBN, ATM, SMN1, RMRP, IDUA, IDS, GLA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, ARSB, AGA, CLN3, TPP1, ASL, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, DBT, MUT, MMAA, MMAB, SGSH, NAGLU, GALNS, GUSB, CPT1A, AGXT, PAH, CTSK, HEXB, ALDH3A2, HEXA, OTC, MPI, G6PC, FAH, RS1, SLC26A4, MECP2, SMPD1, FH, OPA3, HADHA, PANK2, DLD, PCDH15, CLRN1, CNGB3, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, TYR, CHM, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, HFE, FMR1 Specificity 1 % Genes 15 %
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMEM216, ABCC8, MCOLN1, NEB, FKTN, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, FMR1 Specificity 5 % Genes 15 %
Cystic Fibrosis: CFTR Expanded Mutation Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CFTR Specificity 100 % Genes 15 %
ACOG/ACMG Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MCOLN1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1 Specificity 10 % Genes 15 %
ACOG/ACMG Carrier Screen: Targeted Mutation Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MCOLN1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1 Specificity 10 % Genes 15 %
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMEM216, ABCC8, MCOLN1, NEB, FKTN, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, FMR1 Specificity 5 % Genes 15 %
Bronchiectasis: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39 Specificity 7 % Genes 15 %
Ciliopathies: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 76 more genes Panel GTR000558619 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, FOXH1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, TSC1, TSC2, CFTR, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 2 % Genes 15 %
CFTR Intron 8 Poly-T Analysis (non-NY). By Quest Diagnostics Nichols Institute Chantilly in United States. CFTR Specificity 100 % Genes 15 %
CFTR Intron 8 Poly-T Analysis (NY). By Quest Diagnostics Nichols Institute Chantilly in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis DNA Analysis, Fetus. By Quest Diagnostics Nichols Institute Chantilly in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis, Screen. By Quest Diagnostics Nichols Institute Chantilly in United States. CFTR Specificity 100 % Genes 15 %
CFVANTAGE(R) CYSTIC FIBROSIS EXPANDED SCREEN. By Quest Diagnostics Nichols Institute Chantilly in United States. CFTR Specificity 100 % Genes 15 %
Inheritest NGS, Society Guided Panel. By Integrated Genetics Westborough Integrated Genetics in United States. MCOLN1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1, HBB, FMR1 Specificity 9 % Genes 15 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel. By Integrated Genetics Westborough Integrated Genetics in United States. TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR , (...) View the complete list with 18 more genes Panel GTR000530283 complete gene list TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, BBS2, PMM2, GALT, HEXA, G6PC, FAH, DHDDS, SMPD1, DLD, PCDH15, CLRN1, CPT2, BCKDHB, BCKDHA, ATP7B, FMR1 Specificity 3 % Genes 15 %
CF-plus(97 mutation test). By Integrated Genetics Westborough Integrated Genetics in United States. CFTR Specificity 100 % Genes 15 %
Poly (T) Testing for CFTR Intron 8. By Integrated Genetics Westborough Integrated Genetics in United States. CFTR Specificity 100 % Genes 15 %
CF partial gene sequencing. By Integrated Genetics Westborough Integrated Genetics in United States. CFTR Specificity 100 % Genes 15 %
Ashkenazi Jewish Carrier Testing. By Integrated Genetics Westborough Integrated Genetics in United States. TMEM216, ABCC8, MCOLN1, NEB, FKTN, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, BCKDHA Specificity 6 % Genes 15 %
CF full gene sequencing. By Integrated Genetics Westborough Integrated Genetics in United States. CFTR Specificity 100 % Genes 15 %
Inheritest NGS, Comprehensive. By Integrated Genetics Westborough Integrated Genetics in United States. XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...) View the complete list with 120 more genes Panel GTR000551402 complete gene list XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, PEX1, MPL, MCOLN1, LAMA3, GRHPR, SLC35A3, SLC26A2, SACS, PEX7, PPT1, NPHS1, NPHS2, PEX2, CTNS, NEB, MTTP, FKTN, LAMB3, COL4A3, CLN8, ADAMTS2, NBN, ATM, RMRP, NPC2, NPC1, IDUA, IDS, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, ARSB, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC25A20, SLC22A5, ASS1, LRPPRC, GALT, GCDH, CBS, GALC, MAN2B1, MANBA, MUT, MMAA, MMAB, NDUFV1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS7, SURF1, COX15, CTSA, AGXT, PAH, HEXB, ALDH3A2, HEXA, PDHA1, OTC, ETHE1, AMT, GLDC, PCCA, PCCB, GAMT, G6PC, HMGCL, FAH, DHDDS, SMPD1, HADHA, NDUFAF2, FOXRED1, NDUFS4, DLD, PCDH15, CLRN1, GLB1, GNPTAB, CPT2, CPS1, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, HLCS, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADM, FMR1 Specificity 1 % Genes 15 %
Ciliopathies NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...) View the complete list with 75 more genes Panel GTR000505731 complete gene list HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP, WDR19, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, NODAL, WDR35, OFD1, PKD2, UMOD, ATXN10, AHI1, TMEM216, PKHD1, CFTR, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, MYO7A, LCA5, IQCB1, TOPORS, RD3, RDH12, LRAT, PCARE, XPNPEP3, CCDC28B, CCDC39, CDH23, WHRN, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGR, RPGRIP1, TULP1, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, CC2D2A, SPATA7, INVS, USH1C, USH1G, AIPL1, VHL Specificity 2 % Genes 15 %
Bronchiectasis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1G, SCNN1A, CFTR, CCDC39 Specificity 7 % Genes 15 %
Lung Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B , (...) View the complete list with 31 more genes Panel GTR000509435 complete gene list GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1, EFEMP2, SMAD9, TERT, ACVRL1, TERC, BLOC1S6, EDN3, SCNN1B, SCNN1G, SCNN1A, SERPINA1, ENG, FLCN, PHOX2B, TSC1, TSC2, CFTR, AP3B1, CCDC39, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, ELN, RET, FBLN5 Specificity 2 % Genes 15 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 1 % Genes 15 %
CFTR. By Fulgent Genetics Fulgent Genetics in United States. CFTR Specificity 100 % Genes 15 %
CFTR Intron 8 Poly-T Analysis. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
CFTR Intron 8 Poly-T Analysis (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequence. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis D1152H Mutation Analysis. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis D1152H Mutation Analysis (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis DNA Analysis, Fetus (non-NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Gene Deletion or Duplication. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Rare Mutation Analysis, One Exon. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Rare Mutation Analysis, One Exon (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Rare Mutation Analysis, Two Exons. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Screen. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis Screen (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. CFTR Specificity 100 % Genes 15 %
CYSTOFIBRON. By PentaCoreLab in Hungary. CFTR Specificity 100 % Genes 15 %
Primary Ciliary Dyskinesia Panel. By Blueprint Genetics in Finland. PIH1D3, HYDIN, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6, CCDC114, DRC1, ZMYND10 , (...) View the complete list with 16 more genes Panel GTR000552707 complete gene list PIH1D3, HYDIN, 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, CENPF, RSPH3, GAS8, DNAH1, OFD1, CFTR, CCDC39, RPGR, INVS Specificity 3 % Genes 15 %
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 1 % Genes 15 %
Cholestasis Panel. By Blueprint Genetics in Finland. SPINT2, MYO5B, NR1H4, SLC26A3, LCT, CREB3L3, HSD3B7, NOTCH2, TTC37, ABCC2, BAAT, VIPAS39, VPS33B, NEUROG3, LMF1, AKR1D1, PEX5, PEX12, PEX10, PEX26 , (...) View the complete list with 26 more genes Panel GTR000552643 complete gene list SPINT2, MYO5B, NR1H4, SLC26A3, LCT, CREB3L3, HSD3B7, NOTCH2, TTC37, ABCC2, BAAT, VIPAS39, VPS33B, NEUROG3, LMF1, AKR1D1, PEX5, PEX12, PEX10, PEX26, TJP2, PEX6, DCDC2, CYP7B1, TMEM216, PEX1, UGT1A1, SERPINA1, PEX2, NPC2, NPC1, CFTR, MKS1, FAH, DGUOK, SMPD1, SLC25A13, NPHP4, NPHP1, NPHP3, JAG1, TRMU, ATP8B1, ABCB4, ABCB11, EPCAM Specificity 3 % Genes 15 %
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 15 %
Cystic Fibrosis Panel. By Blueprint Genetics in Finland. CFTR Specificity 100 % Genes 15 %
Bronchiectasis Panel. By Blueprint Genetics in Finland. DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40, DNAL1, SCNN1B, SCNN1A, CFTR, CCDC39 Specificity 7 % Genes 15 %
Cystic Fibrosis (CFTR). By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Bioarray in Spain. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Bioarray in Spain. CFTR Specificity 100 % Genes 15 %
CarrierMap. By Recombine in United States. VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37, EDA, CIITA, COL7A1, SLC39A4, ERCC8, RAG2, VSX2, EIF2AK3, LPL, EVC2, EVC, FANCG, FANCA, F8, F9, SRD5A2, MEFV, TECPR2, ERCC6, DNAI1, DNAI2, LYST, CTSC, EXOSC3, POR, RAB23, CHRNG, PEX10, LOXHD1, PEX6, PRPS1, SLC4A11, MYO15A, ATP6V1B1, VPS13A, VPS13B, MFSD8, TSEN54, SGCD, EMD, VRK1, MTM1, COL4A5, BSND, SLC12A3, COL4A4, CYP21A2, KCNJ11, LHCGR, DYSF, FKRP, NTRK1, GJB1, TMEM216, TGM1, RAPSN, PKHD1, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, BRIP1, NBN, ATM, SMN1, RMRP, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AR, AIRE, IL2RG, ARSB, AGA, ADA, NR2E3, CYP17A1, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, BBS12, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, CBS, SLC25A15, IVD, GALC, MLYCD, MAN2B1, DBT, MUT, MMAA, MMAB, NDUFS6, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, MPV17, TCIRG1, AGXT, PAH, PTS, ACOX1, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, PDHA1, OTC, PUS1, MYO7A, ETHE1, MPI, TYMP, ALG6, LCA5, AMT, GLDC, PCCA, PCCB, CERKL, HADHB, HAX1, RARS2, RDH12, GAMT, G6PC, TAT, FAM161A, HSD3B2, HMGCL, FAH, RS1, DHDDS, HPS3, PDHB, HPS1, CDH23, SLC26A4, CYP11B2, SMPD1, GUCY2D, RLBP1, RPE65, FH, OPA3, HADHA, SLC25A13, CYP11B1, POLG, DLD, PCDH15, USH2A, TRIM32, CLRN1, CEP290, CYP1B1, ABCA4, OCRL, GNE, GLB1, GNPTAB, TRMU, CPT2, HSD17B4, ABCA12, SLC37A4, TYR, CHM, SLC45A2, STAR, TYRP1, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, USH1C, PC, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, ABCB11, MCCC2, MCCC1, HPS4, MTHFR, FMR1 Specificity 1 % Genes 15 %
Cystic Fibrosis Screening. By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University in United States. CFTR Specificity 100 % Genes 15 %
Baby Genes Targeted Panel. By Baby Genes Inc. Baby Genes Inc. in United States. TG, TPO, SLC5A5, DUOX2, TSHB, PAX8, HADH, PCBD1, MAT1A, GJB3, CYP21A2, GCH1, HBA2, G6PD, HBA1, NPC2, NPC1, IDUA, GLA, GJB6 , (...) View the complete list with 70 more genes Panel GTR000522527 complete gene list TG, TPO, SLC5A5, DUOX2, TSHB, PAX8, HADH, PCBD1, MAT1A, GJB3, CYP21A2, GCH1, HBA2, G6PD, HBA1, NPC2, NPC1, IDUA, GLA, GJB6, GJB2, BLM, GBA, CFTR, ELP1, TSHR, IL2RG, HPD, GNMT, AHCY, ADA, ASL, SLC25A20, SLC22A5, ASS1, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, CBS, IVD, GALC, MLYCD, DBT, MUT, MMAA, MMAB, MCEE, CPT1A, PAH, HEXA, TCN2, MMADHC, ABCD1, TAZ, OTC, PCCA, PCCB, HADHB, ACADSB, ACAD8, G6PC, TAT, HMGCL, FAH, SLC26A4, SMPD1, HADHA, SLC25A13, DLD, CPT2, MTRR, MTR, MMACHC, HBB, GAA, BCKDHB, BCKDHA, BTD, HLCS, ARG1, ACAT1, ACADVL, ACADS, ACADM, MCCC2, MCCC1, MTHFR Specificity 2 % Genes 15 %
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 2 % Genes 15 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test. By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. FGF19, ONECUT1, HES1, ABCC4, ABCC3, SLCO2B1, SLCO1A2, SLC51B, SLC51A, CHMP5, FOXM1, CD14, MYO5B, NR1H4, COPA, CYP7A1, SEC63, SLCO1B3, SLCO1B1, HSD3B7 , (...) View the complete list with 53 more genes Panel GTR000558423 complete gene list FGF19, ONECUT1, HES1, ABCC4, ABCC3, SLCO2B1, SLCO1A2, SLC51B, SLC51A, CHMP5, FOXM1, CD14, MYO5B, NR1H4, COPA, CYP7A1, SEC63, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, SLC10A1, EPHX1, CLDN1, HJV, HAMP, PRKCSH, TFR2, ABCC2, SLC40A1, BAAT, VPS33B, SCO1, AKR1D1, FTL, TFAM, ABCB1, TJP2, DCDC2, CYP7B1, PKD1, PKD2, PKHD1, UGT1A1, SERPINA1, HBA2, G6PD, HBA1, NPC2, NPC1, LIPA, CFTR, ASL, CYP27A1, ASS1, SUCLG1, MPV17, DGUOK, SLC25A13, RRM2B, POLG, JAG1, AMACR, HNF1B, HBB, INVS, TWNK, BCS1L, ATP8B1, ATP7B, ABCB4, ABCB11, HFE Specificity 2 % Genes 15 %
Cystic Fibrosis Carrier Screen. By Advanced Technology Laboratory Spectrum Health in United States. CFTR Specificity 100 % Genes 15 %
Mutation analysis for Cystic Fibrosis. By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis (CFTR). By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran. CFTR Specificity 100 % Genes 15 %
CYSTIC FIBROSIS (MUCOVISCIDOSIS). By Laboratorio de Genetica Clinica SL in Spain. CFTR Specificity 100 % Genes 15 %
CYSTIC FIBROSIS (MUCOVISCIDOSIS). By Laboratorio de Genetica Clinica SL in Spain. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis, Sequencing CFTR Gene. By Reference Laboratory Genetics in Spain. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis, Mutations CFTR Gene. By Reference Laboratory Genetics in Spain. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis , Deletions-Duplications (MLPA) CFTR Gene. By Reference Laboratory Genetics in Spain. CFTR Specificity 100 % Genes 15 %
Cystic fibrosis. By Labor Dr. Wisplinghoff in Germany. CFTR Specificity 100 % Genes 15 %
Cystic Fibrosis gene sequencing. By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India. CFTR Specificity 100 % Genes 15 %
planTrue Extended. By True Health Diagnostics in United States. HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...) View the complete list with 61 more genes Panel GTR000561192 complete gene list HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS, NEB, HBA2, FKTN, HBA1, ATM, SMN1, RMRP, NPC1, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, AGA, TPP1, BBS1, MKS1, PMM2, SLC22A5, LRPPRC, GALT, GCDH, CBS, PAH, CYP27B1, HEXB, ALDH3A2, HEXA, ABCD1, MYO7A, G6PC, FAH, RS1, CDH23, SLC26A4, SMPD1, DLD, PCDH15, CLRN1, NPHP1, GLB1, GNPTAB, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, ALDOB, ACADVL, AGL, ACADM, FMR1 Specificity 2 % Genes 15 %
planTrue ACOG & ACMG Screen. By True Health Diagnostics in United States. MCOLN1, HBA2, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, SMPD1, HBB Specificity 8 % Genes 15 %
planTrue Standard. By True Health Diagnostics in United States. TMEM216, ABCC8, MCOLN1, NEB, HBA2, FKTN, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15 , (...) View the complete list with 3 more genes Panel GTR000561245 complete gene list TMEM216, ABCC8, MCOLN1, NEB, HBA2, FKTN, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, HBB, BCKDHB Specificity 5 % Genes 15 %
planTrue Basic. By True Health Diagnostics in United States. SMN1, DMD, CFTR Specificity 34 % Genes 15 %
planTrue Jewish Screen. By True Health Diagnostics in United States. TMEM216, ABCC8, MCOLN1, NEB, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB Specificity 6 % Genes 15 %
Phosphorus Male Infertility Panel. By Phosphorus Diagnostics LLC in United States. USP9Y, CATSPER1, AURKC, DPY19L2, FSHB, FSHR, LHCGR, SRY, CFTR, AR Specificity 10 % Genes 15 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SLC5A5, DUOX2, PAX8, HADH, PCBD1, MAT1A, CD320, HCFC1, GJB3, CYP21A2, GCH1, MCOLN1, HBA2, G6PD, HBA1, NPC2, NPC1, IDUA, GLA, GJB6 , (...) View the complete list with 79 more genes Panel GTR000559573 complete gene list SLC5A5, DUOX2, PAX8, HADH, PCBD1, MAT1A, CD320, HCFC1, GJB3, CYP21A2, GCH1, MCOLN1, HBA2, G6PD, HBA1, NPC2, NPC1, IDUA, GLA, GJB6, GJB2, BLM, GBA, CFTR, ELP1, ASPA, IL2RG, HPD, GNMT, AHCY, ADA, ABCD4, ASL, SLC25A20, SLC22A5, ASS1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, CBS, IVD, GALC, MLYCD, DBT, MUT, MMAA, MMAB, MCEE, CPT1A, PAH, QDPR, PTS, HEXA, TCN2, MMADHC, ABCD1, TAZ, OTC, PCCA, PCCB, HADHB, ACADSB, DNAJC19, ACAD8, G6PC, TAT, HMGCL, FAH, ACSF3, SLC26A4, SMPD1, OPA3, HADHA, SLC25A13, DLD, HSD17B10, CPT2, MTRR, MTR, MMACHC, HBB, GAA, BCKDHB, BCKDHA, AUH, BTD, HLCS, ARG1, ACAT1, ACADVL, ACADS, ACADM, MCCC2, MCCC1, MTHFR Specificity 2 % Genes 15 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. TG, TPO, SLC5A5, DUOX2, THRA, TSHB, PAX8, HADH, PCBD1, MAT1A, CD320, THRB, HCFC1, GJB3, CYP21A2, GCH1, MCOLN1, HBA2, G6PD, HBA1 , (...) View the complete list with 84 more genes Panel GTR000559572 complete gene list TG, TPO, SLC5A5, DUOX2, THRA, TSHB, PAX8, HADH, PCBD1, MAT1A, CD320, THRB, HCFC1, GJB3, CYP21A2, GCH1, MCOLN1, HBA2, G6PD, HBA1, NPC2, NPC1, IDUA, GLA, GJB6, GJB2, BLM, GBA, CFTR, ELP1, ASPA, TSHR, IL2RG, HPD, GNMT, AHCY, ADA, ABCD4, ASL, SLC25A20, SLC22A5, ASS1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, CBS, IVD, GALC, MLYCD, DBT, MUT, MMAA, MMAB, MCEE, CPT1A, PAH, QDPR, PTS, HEXA, TCN2, MMADHC, TAZ, OTC, PCCA, PCCB, HADHB, ACADSB, DNAJC19, ACAD8, G6PC, TAT, HMGCL, FAH, ACSF3, SLC26A4, SMPD1, OPA3, HADHA, SLC25A13, DLD, HSD17B10, CPT2, MTRR, MTR, MMACHC, HBB, GAA, BCKDHB, BCKDHA, AUH, BTD, HLCS, ARG1, ACAT1, ACADVL, ACADS, ACADM, MCCC2, MCCC1, MTHFR Specificity 1 % Genes 15 %
Cystic Fibrosis: Full gene sequencing (Rapid testing). By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. CFTR Specificity 100 % Genes 15 %
Cogenital bilateral absence of the vas deferens (CVAD): Full gene sequencing (Rapid testing). By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. CFTR Specificity 100 % Genes 15 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...) View the complete list with 116 more genes Panel GTR000560383 complete gene list HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2, CLN5, CAPN3, ABCC8, TTPA, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, FKTN, LAMB3, CLN8, NBN, ATM, SMN1, RMRP, NPC2, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, ARSB, AGA, CLN3, TPP1, ASL, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, DBT, MUT, MMAA, MMAB, SGSH, NAGLU, GALNS, GUSB, CPT1A, AGXT, PAH, CTSK, HEXB, ALDH3A2, HEXA, MPI, G6PC, FAH, SLC26A4, SMPD1, FH, OPA3, HADHA, PANK2, DLD, PCDH15, CLRN1, CNGB3, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, TYR, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, HFE Specificity 1 % Genes 15 %
Neonatal hypertrypsinemia: Full gene sequencing (Rapid testing). By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. CFTR Specificity 100 % Genes 15 %
Male infertility genetic testing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. CATSPER1, FSHR, LHCGR, CFTR, AR Specificity 20 % Genes 15 %
Cystic fibrosis. By Genomic Laboratory Semmelweis University in Hungary. CFTR Specificity 100 % Genes 15 %

Alternate names

Pancreatitis, Hereditary; Pctt Is also known as hpc, hp, pancreatitis, chronic;.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOTONIA CONGENITA, AUTOSOMAL DOMINANT VON HIPPEL-LINDAU SYNDROME; VHL