Panel Name, Specifity and genes Tested/covered |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories in United States.
FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)
View the complete list with 139 more genes
FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, OCRL, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, MECP2, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, OTC, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, IL2RG, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, BTK, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216
Specificity
1 %
Genes
100 %
|
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories in United States.
UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)
View the complete list with 129 more genes
UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, HBA2, NEB, CTNS, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216
Specificity
1 %
Genes
100 %
|
WAS Testing.
By Siminovitch Lab Mount Sinai Hospital in Canada.
WAS
Specificity
100 %
Genes
100 %
|
Platelet Disorders.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)
View the complete list with 35 more genes
RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8, ABCA1, GP1BA, DHCR24, A2M, ANO6, ADRA2A, FERMT3, GP6, FGA, FGB, GGCX, MYO5A, GNAQ, RAB27A, TBXA2R, VPS33B, FGG, MLPH, PLA2G7, P2RX1, KLKB1, P2RY12, USF1, VIPAS39, TBXAS1, STIM1, PLAU, NBEAL2, ITGA2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL
Specificity
2 %
Genes
100 %
|
Wiskott-Aldrich Syndrome (WAS): WAS (Full Gene Sequencing).
By Molecular Diagnostic Laboratory LabCorp in United States.
WAS
Specificity
100 %
Genes
100 %
|
Wiskott-Aldrich Syndrome (WAS): WAS (Known Mutation).
By Molecular Diagnostic Laboratory LabCorp in United States.
WAS
Specificity
100 %
Genes
100 %
|
WAS Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
WAS
Specificity
100 %
Genes
100 %
|
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)
View the complete list with 39 more genes
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, FANCB, DKC1, LYST, TERC, TERT, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, ERCC4, SRP72, RPS7, USB1, RAB27A, CSF3R, ELANE, RPL15, G6PC3, VPS45, RPL26, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4
Specificity
2 %
Genes
100 %
|
Inherited Neutropenia panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)
View the complete list with 1 more genes
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
5 %
Genes
100 %
|
Bone Marrow Failure Syndromes Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)
View the complete list with 35 more genes
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1, LYST, TERC, TERT, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, ERCC4, SRP72, RPS7, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, RPL26, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4
Specificity
2 %
Genes
100 %
|
Inherited Neutropenia Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
5 %
Genes
100 %
|
WAS Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
WAS
Specificity
100 %
Genes
100 %
|
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.
By Genetic Services Laboratory University of Chicago in United States.
BRCA1, BRCA2, ADA, BLM, ATM, NBN, PRF1, WAS, NF1, MAGT1, DOCK8, SH2D1A, IKZF1, TNFRSF13B, FAS, FASLG, CASP10, STXBP2, ITK, PIK3CD , (...)
View the complete list with 3 more genes
BRCA1, BRCA2, ADA, BLM, ATM, NBN, PRF1, WAS, NF1, MAGT1, DOCK8, SH2D1A, IKZF1, TNFRSF13B, FAS, FASLG, CASP10, STXBP2, ITK, PIK3CD, CD27, CTLA4, CARD11
Specificity
5 %
Genes
100 %
|
Inherited Bone Marrow Failure Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)
View the complete list with 41 more genes
BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, RPS7, USB1, CSF3R, ELANE, RPL15, G6PC3, VPS45, RPL26, RBM8A, GFI1, CXCR4, ACD, DNAJC21, POT1, NAF1, SAMD9, SAMD9L
Specificity
2 %
Genes
100 %
|
Severe Congenital Neutropenia Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
HAX1, WAS, CSF3R, ELANE, G6PC3, VPS45, GFI1, CXCR4
Specificity
13 %
Genes
100 %
|
Thrombocytopenia Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)
View the complete list with 23 more genes
CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, ETV6, GP1BB, RBM8A, SRC, CFHR4, SLFN14, RUNX1T1, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9
Specificity
3 %
Genes
100 %
|
Thrombocytopenia Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)
View the complete list with 23 more genes
RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, ETV6, GP1BB, RBM8A, SRC, CFHR4, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9
Specificity
3 %
Genes
100 %
|
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.
By Genetic Services Laboratory University of Chicago in United States.
BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)
View the complete list with 59 more genes
BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN, PALB2, CHEK2, BRIP1, GATA2, PAX5, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, SBF2, NF1, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1, TERC, TERT, PARN, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCL, FANCI, FANCD2, ERCC4, SRP72, RPS7, USB1, IKZF1, ETV6, CSF3R, ELANE, RPL15, G6PC3, VPS45, RPL26, RBM8A, GFI1, CXCR4, ACD, DNAJC21, POT1, NAF1, SAMD9, SAMD9L, UBE2T, RAD51
Specificity
2 %
Genes
100 %
|
WAS Gene Sequencing.
By GeneDx in United States.
WAS
Specificity
100 %
Genes
100 %
|
WAS mutation analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
WAS
Specificity
100 %
Genes
100 %
|
WAS. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
WAS
Specificity
100 %
Genes
100 %
|
Severe combined immunodeficiency Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
100 %
|
Severe combined immunodeficency Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
100 %
|
Severe combined immunodeficiency Del/dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
100 %
|
Arthrogryposis, distal type 2B (sequence analysis of TNNT3 gene).
By CGC Genetics in Portugal.
WAS
Specificity
100 %
Genes
100 %
|
Severe congenital neutropenia (NGS panel for 7 genes).
By CGC Genetics in Portugal.
HAX1, WAS, ELANE, G6PC3, VPS45, GFI1, JAGN1
Specificity
15 %
Genes
100 %
|
Hereditary neutropenia (NGS panel for 22 genes).
By CGC Genetics in Portugal.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)
View the complete list with 2 more genes
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1, JAGN1
Specificity
5 %
Genes
100 %
|
Wiskott-aldrich syndrome.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.
WAS
Specificity
100 %
Genes
100 %
|
Thrombocytopenia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
9 %
Genes
100 %
|
Bleeding Disorders Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)
View the complete list with 41 more genes
F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, ANO6, GP6, FGA, FGB, GGCX, TBXA2R, FGG, P2RX1, P2RY12, TBXAS1, PLAU, NBEAL2, ITGA2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, SERPINE1, GP1BB, VKORC1, F7, PRKACG, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1
Specificity
2 %
Genes
100 %
|
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, NLRP3, MVK, MAGT1, BLOC1S6, LYST, MEFV, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2 , (...)
View the complete list with 6 more genes
AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, NLRP3, MVK, MAGT1, BLOC1S6, LYST, MEFV, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27, TNFRSF1A, NLRC4, IL2RA, CD70
Specificity
4 %
Genes
100 %
|
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene.
By PreventionGenetics PreventionGenetics in United States.
WAS
Specificity
100 %
Genes
100 %
|
Severe Congenital Neutropenia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)
View the complete list with 5 more genes
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1, JAGN1, DNAJC21, WDR1, SMARCD2
Specificity
4 %
Genes
100 %
|
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.
By PreventionGenetics PreventionGenetics in United States.
RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, ETV6 , (...)
View the complete list with 9 more genes
RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, ETV6, GP1BB, RBM8A, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, MECOM
Specificity
4 %
Genes
100 %
|
Thrombocytopenia NGS Panel.
By Connective Tissue Gene Tests in United States.
RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)
View the complete list with 8 more genes
RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A, WIPF1, SRC, SLFN14, PRKACG, FYB1, FLI1, TUBB1, MECOM
Specificity
4 %
Genes
100 %
|
Platelet bleeding disorders NGS panel.
By Connective Tissue Gene Tests in United States.
DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)
View the complete list with 14 more genes
DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12, TBXAS1, PLAU, NBEAL2, GFI1B, CD36, ITGB3, ITGA2B, GP1BB, WIPF1, SLFN14, PRKACG, ACTN1, GP9, RASGRP2
Specificity
3 %
Genes
100 %
|
Thrombocytopenia Deletion / Duplication Panel.
By Connective Tissue Gene Tests in United States.
RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)
View the complete list with 8 more genes
RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A, WIPF1, SRC, SLFN14, PRKACG, FYB1, FLI1, TUBB1, MECOM
Specificity
4 %
Genes
100 %
|
Platelet bleeding disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)
View the complete list with 14 more genes
DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12, TBXAS1, PLAU, NBEAL2, GFI1B, CD36, ITGB3, ITGA2B, GP1BB, WIPF1, SLFN14, PRKACG, ACTN1, GP9, RASGRP2
Specificity
3 %
Genes
100 %
|
Thrombocytopenia Comprehensive Panel.
By Connective Tissue Gene Tests in United States.
RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)
View the complete list with 8 more genes
RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A, WIPF1, SRC, SLFN14, PRKACG, FYB1, FLI1, TUBB1, MECOM
Specificity
4 %
Genes
100 %
|
Platelet bleeding disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)
View the complete list with 14 more genes
DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12, TBXAS1, PLAU, NBEAL2, GFI1B, CD36, ITGB3, ITGA2B, GP1BB, WIPF1, SLFN14, PRKACG, ACTN1, GP9, RASGRP2
Specificity
3 %
Genes
100 %
|
Thrombocytopenia 1 Comprehensive test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Wiskott-Aldrich syndrome Sequencing test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Wiskott-Aldrich syndrome Comprehensive test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Neutropenia, severe congenital, X-linked Comprehensive test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Neutropenia, severe congenital, X-linked sequencing test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Thrombocytopenia 1 Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Wiskott-Aldrich syndrome Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Neutropenia, severe congenital, X-linked Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Thrombocytopenia 1 Sanger test.
By Connective Tissue Gene Tests in United States.
WAS
Specificity
100 %
Genes
100 %
|
Severe Congenital Neutropenia Sequential Panel.
By FirmaLab in United States.
HAX1, WAS, ELANE, G6PC3, GFI1
Specificity
20 %
Genes
100 %
|
WAS Gene.
By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.
WAS
Specificity
100 %
Genes
100 %
|
WAS.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
WAS
Specificity
100 %
Genes
100 %
|
Thrombocytopenia panel.
By Centogene AG - the Rare Disease Company in Germany.
RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, GP9
Specificity
9 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
Thrombocytopenia X linked intermittent.
By Centogene AG - the Rare Disease Company in Germany.
WAS
Specificity
100 %
Genes
100 %
|
Bone marrow failure syndromes Panel.
By CeGaT GmbH in Germany.
BRCA2, FANCC, TINF2, MRE11, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, RTEL1, WAS, FANCB, DKC1, LYST, TERC, TERT, CSF2RA, CTC1, WRAP53 , (...)
View the complete list with 17 more genes
BRCA2, FANCC, TINF2, MRE11, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, RTEL1, WAS, FANCB, DKC1, LYST, TERC, TERT, CSF2RA, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, SRP72, STX11, STXBP2, LIG4, IFNG
Specificity
3 %
Genes
100 %
|
Syndromes with immunodeficiency Panel.
By CeGaT GmbH in Germany.
PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)
View the complete list with 18 more genes
PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC, TERT, DOCK8, ADAR, FGF10, CFH, NHP2, NOD2, PDGFRA, SMARCAL1, TYK2, DNMT3B, RNF168, SPINK5, MCM4, ZBTB24, FCGR3A, RPSA, SP110
Specificity
3 %
Genes
100 %
|
Defects of phagocytosis Panel.
By CeGaT GmbH in Germany.
HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)
View the complete list with 39 more genes
HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB, WAS, DNM2, VPS13B, ACTB, GATA1, CTSC, TERT, CSF2RA, NCF2, NCF4, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, MLPH, CSF3R, IFNGR1, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1, IL12RB1, JAGN1, IL12B, ISG15, NCF1, ITGB2, CEBPE, IRF8, ACKR1, MPO, FCGR3B, FPR1
Specificity
2 %
Genes
100 %
|
Thrombocytopenia.
By Asper Biogene Asper Biogene LLC in Estonia.
RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGA2B, MASTL, GP1BB, GP9
Specificity
8 %
Genes
100 %
|
Wiskott-Aldrich syndrome, WAS sequencing.
By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.
WAS
Specificity
100 %
Genes
100 %
|
WAS Sequence Analysis.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
WAS
Specificity
100 %
Genes
100 %
|
aCGH Deletion/Duplication Analysis.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)
View the complete list with 45 more genes
F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1, F11, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, F9, F8, CFHR1, CFHR3, DGKE, ADAMTS13, GP1BA, GP6, FGA, FGB, GGCX, TBXA2R, FGG, PLAU, HOXA11, MASTL, GP1BB, ELANE, STXBP2, G6PC3, RBM8A, PROC, VKORC1, F7, CFHR4, ACTN1, GP9, F10, F13A1, SERPINC1, LMAN1, C4BPA, C4BPB, PLA2G4A, HRG, SERPIND1
Specificity
2 %
Genes
100 %
|
Inherited Thrombocytopenia Panel.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.
WAS, MYH9, GATA1
Specificity
34 %
Genes
100 %
|
Neutropenia, severe congenital.
By Praxis fuer Humangenetik Wien in Austria.
WAS
Specificity
100 %
Genes
100 %
|
Thrombocytopenia 1.
By Praxis fuer Humangenetik Wien in Austria.
WAS
Specificity
100 %
Genes
100 %
|
Wiskott-Aldrich syndrome.
By Praxis fuer Humangenetik Wien in Austria.
WAS
Specificity
100 %
Genes
100 %
|
Neutropenia, severe congenital.
By MedGene in Slovakia.
WAS
Specificity
100 %
Genes
100 %
|
Wiskott-Aldrich syndrome.
By MedGene in Slovakia.
WAS
Specificity
100 %
Genes
100 %
|
Thrombocytopenia 1.
By MedGene in Slovakia.
WAS
Specificity
100 %
Genes
100 %
|
Invitae Bone Marrow Failure Syndromes Panel.
By Invitae in United States.
BRCA2, RUNX1, RPL35A, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, WAS, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)
View the complete list with 19 more genes
BRCA2, RUNX1, RPL35A, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, WAS, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1, TERC, TERT, CTC1, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, RPS7, ELANE, RPL26
Specificity
3 %
Genes
100 %
|
Invitae WAS-Related Disorders Test.
By Invitae in United States.
WAS
Specificity
100 %
Genes
100 %
|
Invitae Monogenic Autoimmunity Panel.
By Invitae in United States.
STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)
View the complete list with 53 more genes
STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, FOXP3, BLOC1S6, LYST, DOCK8, IFIH1, ADAR, SH2D1A, NCF2, NCF4, RAB27A, STIM1, TNFRSF13B, AICDA, CD40LG, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, RAC2, STAT5B, ORAI1, PIK3CD, LRBA, NFKBIA, FADD, CD27, RFX5, RFXANK, RFXAP, NFKB2, CTLA4, IL10RA, PIK3R1, TPP2, CR2, ICOS, IL10RB, TNFRSF13C, ADA2, PRKCD, TMEM173, IL2RA, IL10, ACP5, PLCG2, IL21, IL21R, ITCH, TNFSF12, NFAT5
Specificity
2 %
Genes
100 %
|
Invitae Monogenic Inflammatory Bowel Disease Panel.
By Invitae in United States.
STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)
View the complete list with 26 more genes
STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1, AICDA, CD40LG, RAG2, RAG1, ZAP70, XIAP, STXBP2, G6PC3, LIG4, PIK3CD, LRBA, CTLA4, IL10RA, NLRC4, TTC7A, PIK3R1, ICOS, IL10RB, IL2RA, IL10, PLCG2, ITGB2, IL21, CD3G, ADAM17, NFAT5
Specificity
3 %
Genes
100 %
|
Invitae Primary Immunodeficiency Panel.
By Invitae in United States.
PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 187 more genes
PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CHD7, RMRP, TINF2, ATM, NBN, GATA2, PRF1, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13B, ACTB, NLRP3, SEMA3E, MVK, FOXP3, MAGT1, DKC1, CTSC, BLOC1S6, LYST, TBK1, TERC, TERT, PARN, DOCK8, CSF2RA, PSMB8, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, SH3BP2, CTC1, NHP2, NOP10, NOD2, SLC29A3, FERMT3, RAB27A, STIM1, MYD88, CSF3R, TNFRSF13B, AICDA, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, IL17F, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, TPP2, ACD, CARD9, CR2, ICOS, IL10RB, PRKDC, TNFRSF13C, TYK2, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, UNC93B1, TRAF3, TICAM1, NLRP12, TMEM173, CARD11, IL2RA, DNMT3B, CLPB, TRNT1, SPINK5, IL36RN, CARD14, IL1RN, IL10, ACP5, RBCK1, PLCG2, B2M, BLNK, CD79A, IGLL1, CD79B, ITGB2, TMC6, TMC8, CEBPE, COPA, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, CD3G, CORO1A, STAT2, ITCH, CD8A, CD247, IRF8, BCL10, ADAM17, ZBTB24, CTPS1, LCK, IKBKB, TNFSF12, SP110, FPR1, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, NFAT5, MAP3K14, DOCK2, DCLRE1B, RORC, IRF7
Specificity
1 %
Genes
100 %
|
Invitae Phagocyte Defects Panel.
By Invitae in United States.
SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)
View the complete list with 7 more genes
SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, JAGN1, CLPB, SPINK5, ITGB2, CEBPE, FPR1
Specificity
4 %
Genes
100 %
|
Invitae Syndromic Combined Immunodeficiency (CID) Panel.
By Invitae in United States.
PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)
View the complete list with 17 more genes
PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10, STIM1, POLE, STAT5B, ORAI1, FOXN1, NFKBIA, WIPF1, EPG5, SMARCAL1, TTC7A, ACD, PGM3, DNMT3B, SPINK5, ZBTB24, SP110, DCLRE1B
Specificity
3 %
Genes
100 %
|
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel.
By Invitae in United States.
AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, MVK, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27 , (...)
View the complete list with 1 more genes
AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, MVK, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27, IL2RA
Specificity
5 %
Genes
100 %
|
Wiskott-Aldrich syndrome: WAS gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
WAS
Specificity
100 %
Genes
100 %
|
Neutropenia.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
HAX1, WAS, CSF3R, ELANE, G6PC3, VPS45, GFI1, RAC2, JAGN1
Specificity
12 %
Genes
100 %
|
Early Onset Inflammatory Bowel Disease: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)
View the complete list with 6 more genes
PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP, STXBP2, LRBA, IL10RA, TTC37, ICOS, IL2RA
Specificity
4 %
Genes
100 %
|
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)
View the complete list with 6 more genes
PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP, STXBP2, LRBA, IL10RA, TTC37, ICOS, IL2RA
Specificity
4 %
Genes
100 %
|
Thrombocytopenia NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
10 %
Genes
100 %
|
Severe Congenital Neutropenia NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
HAX1, WAS, ELANE, G6PC3, GFI1
Specificity
20 %
Genes
100 %
|
WAS.
By Fulgent Genetics Fulgent Genetics in United States.
WAS
Specificity
100 %
Genes
100 %
|
X-chromosome High Resolution microarray analysis.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.
ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)
View the complete list with 140 more genes
ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, IL2RG, AR, ARX, CDKL5, DMD, GLA, IDS, IKBKG, PCDH19, PLP1, PORCN, POU3F4, SRY, HDAC8, G6PD, CYBB, WAS, BTK, GJB1, UBA1, NR0B1, SHOX, ANOS1, AVPR2, COL4A5, L1CAM, FHL1, UBQLN2, MTM1, EMD, SLC35A2, ALG13, DCX, PQBP1, FLNA, SRPX2, WDR45, PIGA, OFD1, SMS, ATRX, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, RAB39B, PRPS1, SMPX, MID1, MED12, AP1S2, NLGN4X, NLGN3, GATA1, PHF8, IGBP1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, ZC4H2, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KDM6A, CSF2RA, PGK1, SH2D1A, EFNB1, F9, F8, ZIC3, XIAP, XK, EDA, CCNQ, ARSE, MAMLD1, ZNF674, IGSF1, CLCN5, ATP2B3, STS, POLA1, CFP, AMELX, TRAPPC2, VMA21, CHRDL1, COX7B, TBX22, SLC6A14, SAT1, SERPINA7
Specificity
1 %
Genes
100 %
|
Thrombocytopenia Panel.
By Blueprint Genetics in Finland.
RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL , (...)
View the complete list with 14 more genes
RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, ETV6, GP1BB, RBM8A, WIPF1, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, MECOM, ARPC1B
Specificity
3 %
Genes
100 %
|
Primary Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 255 more genes
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CFTR, BLM, CHD7, KRAS, NRAS, RMRP, TINF2, ATM, MRE11, NBN, GATA2, SBDS, PRF1, G6PD, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, PIGA, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, OFD1, TREX1, VPS13B, TBX1, ACTB, NLRP3, MVK, FOXP3, MAGT1, DKC1, CTSC, UNC119, LYST, TERC, TERT, PARN, DOCK8, CSF2RA, CSF2RB, PSMB8, HELLS, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, CFB, CFI, CFH, CD46, C3, THBD, CTC1, WRAP53, NHP2, NOP10, C1S, NOD2, DGKE, SLC29A3, MASP1, SRP72, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, STIM1, MYD88, IKZF1, CSF3R, TNFRSF13B, AICDA, CD40, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, ACD, CARD9, CD19, CR2, CD81, ICOS, IL10RB, PRKDC, TYK2, CFD, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, DNAJC21, C2, UNC93B1, NLRP12, TMEM173, CARD11, SAMD9, SAMD9L, IL2RA, DNMT3B, RNU4ATAC, USP18, CLPB, RNF168, TRNT1, SERPING1, SPINK5, IL36RN, CARD14, NLRP1, TNFAIP3, NCSTN, PSENEN, IL1RN, DDX58, IL10, RNF31, C1QC, ACP5, C1QA, RBCK1, C1QB, PLCG2, BLNK, CD79A, IGLL1, CD79B, NCF1, ITGB2, PEPD, CFP, TMC6, TMC8, COLEC11, CEBPE, COPA, NFKB1, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, TCF3, CD3G, CORO1A, CD70, WDR1, SMARCD2, EXTL3, STAT2, MTHFD1, CD8A, CD247, IRF8, BCL10, ADAM17, CD59, ZBTB24, ERCC6L2, CTPS1, LCK, IKBKB, RPSA, SP110, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, MAP3K14, DOCK2, DCLRE1B, RORC, CD55, IFNAR2, NSMCE3, CDCA7, GINS1, MSN, MRTFA, LAT, BACH2, ARPC1B, JAK1, HYOU1, POLE2, TFRC, ZNF341, CARMIL2, RASGRP1, IRF2BP2, OTULIN, BCL11B
Specificity
1 %
Genes
100 %
|
Severe Combined Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)
View the complete list with 59 more genes
PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A, JAK3, STIM1, CD40, CD40LG, IFNGR1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, ITK, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, PIK3CD, LRBA, CD27, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, EPG5, SMARCAL1, PRKDC, TYK2, PGM3, CARD11, IL2RA, DNMT3B, SPINK5, ITGB2, MALT1, CD3G, CORO1A, STAT2, CD8A, CD247, IRF8, LCK, IKBKB, SP110, RHOH, TNFRSF4, TAP2, TAPBP, MAP3K14, NSMCE3, MSN, LAT, POLE2, TFRC, BCL11B
Specificity
2 %
Genes
100 %
|
Bleeding Disorder/Coagulopathy Panel.
By Blueprint Genetics in Finland.
F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)
View the complete list with 42 more genes
F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11, VWF, THBD, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, FGA, FGB, GGCX, TBXA2R, FGG, P2RY12, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, ETV6, GP1BB, RBM8A, PROS1, PROC, VKORC1, F7, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, SERPINC1, MECOM, MCFD2, LMAN1
Specificity
2 %
Genes
100 %
|
Comprehensive Hematology Panel.
By Blueprint Genetics in Finland.
BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)
View the complete list with 219 more genes
BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B
Specificity
1 %
Genes
100 %
|
Bone Marrow Failure Syndrome Panel.
By Blueprint Genetics in Finland.
BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)
View the complete list with 102 more genes
BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1, AP3B1, AK2, ANKRD26, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, MPL, RTEL1, WAS, NF1, VPS13B, ACTB, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, CSF2RA, SH2D1A, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, MYO5A, RAB27A, IKZF1, ETV6, CSF3R, IFNGR2, UNC13D, FAS, STX11, ELANE, XIAP, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1, JAGN1, ACD, PGM3, DNAJC21, SAMD9, SAMD9L, DDX41, RPS29, SMARCD2, ERCC6L2
Specificity
1 %
Genes
100 %
|
Congenital Neutropenia Panel.
By Blueprint Genetics in Finland.
SLC37A4, HAX1, GATA2, SBDS, WAS, VPS13B, ACTB, CTSC, LYST, CSF2RA, SRP72, CSF3R, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, JAGN1 , (...)
View the complete list with 6 more genes
SLC37A4, HAX1, GATA2, SBDS, WAS, VPS13B, ACTB, CTSC, LYST, CSF2RA, SRP72, CSF3R, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, JAGN1, PGM3, CLPB, WDR1, SMARCD2, GINS1, MRTFA
Specificity
4 %
Genes
100 %
|
Severe congenital neutropenia X-linked.
By Bioarray in Spain.
WAS
Specificity
100 %
Genes
100 %
|
Wiskott-Aldrich syndrome.
By Bioarray in Spain.
WAS
Specificity
100 %
Genes
100 %
|
CarrierMap.
By Recombine in United States.
FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)
View the complete list with 281 more genes
FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53
Specificity
1 %
Genes
100 %
|
Severe Congenital Neutropenia Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
RUNX1, SLC37A4, HAX1, AP3B1, TAZ, TCIRG1, KRAS, NRAS, GATA2, SBDS, WAS, VPS13B, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)
View the complete list with 4 more genes
RUNX1, SLC37A4, HAX1, AP3B1, TAZ, TCIRG1, KRAS, NRAS, GATA2, SBDS, WAS, VPS13B, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, CXCR4, JAGN1, CXCR2
Specificity
5 %
Genes
100 %
|
Severe Congenital Neutropenia, Nonsyndromic NGS and Deletion/Duplication Panel.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
HAX1, WAS, CSF3R, ELANE, G6PC3, GFI1
Specificity
17 %
Genes
100 %
|
WAS Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
WAS
Specificity
100 %
Genes
100 %
|
Inherited Bone Marrow Failure Panel.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.
BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)
View the complete list with 38 more genes
BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, FANCB, DKC1, TERC, TERT, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, ETV6, CSF3R, ELANE, RPL15, G6PC3, RPL26, GFI1, ACD, TERF2IP, POT1, DDX41, TERF2, TERF1
Specificity
2 %
Genes
100 %
|
Caris MI TumorSeek 592-Gene NGS Panel.
By Caris Life Sciences in United States.
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)
View the complete list with 571 more genes
BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2, RET, ELN, CASP8, SDHC, RAF1, FH, IDH2, SDHB, ALDH2, ATIC, AMER1, BCOR, SOX2, NCOA4, SEPT9, STAT3, MEN1, TSHR, FGFR3, AR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, MAP2K2, TSC2, RAD21, CBL, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, BARD1, PMS1, MPL, WAS, BTK, NDRG1, DNM2, NTRK1, CNBP, NF1, FGFR1, FGF23, PDK1, FUS, TPM3, FGF14, GRIN2A, STIL, KMT2D, SETD2, TBL1XR1, ATRX, PHF6, PAK3, KDM5C, SETBP1, CACNA1D, HGF, ERCC2, ERCC3, PAX3, SOX10, FGF3, GATA3, MYH9, MED12, FOXP1, CTNNB1, KAT6B, GATA1, RPL5, CANT1, RPL10, MTOR, ATR, NOTCH1, TGFBR2, MYH11, DNMT3A, EZH2, MITF, KCNJ5, AKAP9, KDM6A, TFG, CTNNA1, MAF, TERT, NKX2-1, PRDM16, ERBB3, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, NT5C2, FLT4, FGF10, EP300, KIT, ASXL1, JAK3, SH2B3, CALR, GNAS, CREB3L1, SMAD2, FANCA, FANCG, FANCF, FANCE, FANCL, FANCD2, CYP2D6, BAP1, CDKN1B, VEGFA, ERCC4, PIK3CA, MYCN, CSF1R, AKT2, GNAQ, HOXA11, FLT3, NPM1, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CSF3R, CBLB, BCORL1, CBLC, IL7R, POLE, GNA11, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ITK, STAT5B, PTPRC, BCR, NFKBIA, CIITA, NFKB2, CTLA4, PIK3R1, PRKDC, NOTCH2, POT1, CARD11, AFF4, NTRK2, MNX1, CCND2, HOXA13, MAP3K1, SRC, RUNX1T1, FLI1, MUC1, CDK6, KNL1, EZR, CTCF, NIN, TCF12, WRN, PAX8, DICER1, PDGFRB, PDGFB, ATP2B3, CAMTA1, ERCC5, XPA, RAD51, BUB1B, NSD2, WISP3, HOXD13, CYLD, FLT1, KDR, ZNF384, TNFAIP3, KDSR, KIAA1549, LIFR, TRIP11, CD79A, CD79B, KAT6A, XPC, CCND1, BCL2, CDK12, DDB2, ABL2, IL21R, MALT1, ETV5, IGF1R, MDM2, DDR2, GPHN, RNF213, MAFB, CHN1, PML, DEK, NUMA1, PICALM, HNRNPA2B1, ERBB2, CBFB, ERCC1, RARA, TCF3, PBX1, FIP1L1, ZBTB16, TAL1, AFF3, NUP214, MN1, MLLT3, CLP1, MLLT1, CDKN2B, YWHAE, SMO, BCL6, MYC, BIRC3, RPN1, MECOM, CDKN2C, HOXC13, RNF43, NUP93, PRRX1, CLTCL1, NONO, AXL, BCL11A, TET1, CIC, SLC34A2, CLTC, PPP2R1A, ERBB4, ATP1A1, KDM5A, RALGDS, RICTOR, RAC1, CD74, CCNE1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, KIF5B, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, SS18L1, ESR1, BCL10, IL2, LCK, INHBA, MLF1, CRLF2, ABI1, AXIN1, UBR5, EWSR1, TAF15, RHOH, PAX7, CRKL, PIK3CG, FOXA1, RBM15, CREB1, IRS2, PCM1, HMGA1, IRF4, HMGA2, HIP1, GOLGA5, TCF7L2, GSK3B, GOPC, NCKIPSD, NACA, CDX2, CCNB1IP1, CDH11, MYB, NFIB, CCND3, CDK8, NCOA1, CD274, NCOA2, FUBP1, GAS7, FOXO3, FOXO4, TENT5C, FHIT, ERG, FBXO11, ERC1, FCRL4, FGF6, FEV, ELF4, ECT2L, EPS15, EPHA5, DOT1L, EBF1, EPHA3, EIF4A2, PER1, ELK4, EPHB1, PDCD1LG2, DDX10, PAFAH1B2, DAXX, DDIT3, PBRM1, PDCD1, DDX5, PCSK7, PATZ1, DDX6, PDE4DIP, CNTRL, COPB1, CRTC3, CRTC1, OMD, NUP98, CNOT3, CHIC2, CHEK1, CHCHD7, CARS, NUTM1, MSN, BCL7A, WDCP, MAML2, EMSY, MCL1, MRTFA, BRD3, BCL9, MAP2K4, MLLT10, MDM4, MLLT11, AFDN, LHFPL6, ARHGAP26, ARFRP1, LASP1, LRIG3, ATF1, KTN1, LMO1, AURKB, BCL2L2, ARHGEF12, BCL2L11, ARNT, LPP, LGR5, LCP1, LRP1B, ASPSCR1, KLK2, HSP90AA1, HSP90AB1, IKBKE, JAZF1, IL6ST, KLHL6, HOXA9, HOOK3, JUN, JAK1, HEY1, HIST1H3B, HERPUD1, PRDM1, POU5F1, PIM1, POU2AF1, PRCC, PLAG1, VTI1A, TMPRSS2, USP6, VEGFB, TRIM26, TNFRSF14, TRRAP, TRAF7, TPR, TTL, TNFRSF17, TLX3, TRIM27, ZMYM2, ZNF521, ZNF217, XPO1, WWTR1, TFPT, SEPT5, TFRC, NSD3, THRAP3, ZNF331, SRSF3, TCEA1, SRGAP3, STAT4, SS18, SSX1, SPOP, SOCS1, SNX29, SPEN, SPECC1, TCL1A, SYK, SLC45A3, REL, SH3GL1, SDC4, RPL22, RAD51B, RANBP17, PSIP1, RABEP1, ACKR3, ACSL6, AFF1, ACSL3, ADGRA2, BTG1, ELL, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, TFEB, ETV4, NUTM2B, BCL11B, KLF4, H3F3A, FGF19, SUZ12, FGF4, P2RY8, TOP1, AURKA, MEF2B, ZNF703, GID4, H3F3B, TRIM33, WIF1, GMPS, SFPQ, LYL1, MDS2, FGFR1OP, RAP1GDS1, FNBP1, LMO2, HOXC11, TAL2, SEPT6, MLLT6, HLF, COX6C, OLIG2, C15orf65, TPM4, RMI2, FSTL3, CBFA2T3, CCDC6, TLX1, HIST1H4I, HOXD11, MTCP1
Specificity
1 %
Genes
100 %
|
WISKOTT-ALDRICH SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
WAS
Specificity
100 %
Genes
100 %
|
Wiskott-Aldrich Syndrome , Sequencing WAS Gene.
By Reference Laboratory Genetics in Spain.
WAS
Specificity
100 %
Genes
100 %
|
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.
By Reference Laboratory Genetics in Spain.
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)
View the complete list with 38 more genes
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, FANCB, DKC1, LYST, TERC, TERT, CALR, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCL, FANCI, FANCD2, ERCC4, SRP72, RPS7, USB1, RAB27A, JAK2, CSF3R, ELANE, G6PC3, RPL26, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4
Specificity
2 %
Genes
100 %
|
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.
By Reference Laboratory Genetics in Spain.
TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)
View the complete list with 25 more genes
TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG, XIAP, STXBP2, WIPF1, CTLA4, IL10RA, IL17F, CARD9, ICOS, IL10RB, IL2RA, IL10, PLCG2, NCF1, MYO5B, GUCY2C, IL21, IL21R, IL17RA, IL6, ADAM17, ATG16L1, FUT2, IL23R, IRGM, PTGER4
Specificity
3 %
Genes
100 %
|
Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.
By Reference Laboratory Genetics in Spain.
RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, JAK2, GP1BB, SRC, GP9
Specificity
7 %
Genes
100 %
|
Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes.
By Reference Laboratory Genetics in Spain.
HAX1, TAZ, WAS, CSF3R, ELANE, G6PC3, GFI1, LAMTOR2, RAC2
Specificity
12 %
Genes
100 %
|
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes.
By Reference Laboratory Genetics in Spain.
SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
5 %
Genes
100 %
|
Wiskott-Aldrich syndrome.
By Labor Dr. Wisplinghoff in Germany.
WAS
Specificity
100 %
Genes
100 %
|
planTrue Extended.
By True Health Diagnostics in United States.
FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)
View the complete list with 61 more genes
FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1, SLC26A4, CDH23, RS1, FAH, G6PC, MYO7A, ABCD1, HEXA, ALDH3A2, HEXB, CYP27B1, PAH, CBS, GCDH, GALT, LRPPRC, SLC22A5, PMM2, MKS1, BBS1, TPP1, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, NPC1, RMRP, SMN1, ATM, HBA1, FKTN, HBA2, NEB, CTNS, PROP1, PPT1, SLC26A2, MCOLN1, POMGNT1, SLC17A5, TTPA, WAS, ABCC8, CLN5, PKHD1, DPYD, TMEM216, KCNJ11, CYP21A2, TNNT1, MEFV, F11, HGD
Specificity
2 %
Genes
100 %
|
Tempus xO assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)
View the complete list with 1693 more genes
BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG, LRP5, COL3A1, STAT1, WT1, PAX6, TGFB1, TLR4, RB1, PSEN1, SDHAF2, HNF1B, RET, MC1R, CASP8, COMT, SHH, DSP, KIF1B, SDHC, RAF1, FH, FBN1, GOT1, PRPF6, MERTK, IDH2, SDHB, HAX1, CTSD, PHOX2A, MAOA, AMER1, BCOR, PRKN, PPP2R1B, SOX2, CYP17A1, NCOA4, ZFHX3, TMEM127, STAT3, MEN1, PAX2, PLA2G2A, PHB, TEAD1, MAK, SDHA, IL2RG, TSHR, FGFR3, AR, ARX, ELP1, FANCC, BLM, BRAF, CHD7, CREBBP, FOXG1, GLA, HRAS, KRAS, LDLR, LEPR, MAP2K1, NRAS, PTPN11, RUNX2, SHOC2, SOS1, TINF2, VDR, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NIPBL, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, G6PD, UGT1A1, MPL, WAS, BTK, PKHD1, DPYD, NDRG1, EGR2, DNM2, LMNA, NTRK1, WNK1, PSEN2, NOTCH3, PPP2R2B, TBP, NF1, LRRK2, NR0B1, FGFR1, LHCGR, GNRHR, FGF8, HSD11B2, CYP21A2, GHR, FGF23, MYH7, PDK1, CACNA1S, RYR1, FUS, MYBPC3, SYNE1, TMEM43, SMCHD1, MUSK, FGF14, MCPH1, KCNH2, CHD2, GRIN2A, SCN5A, KMT2D, MAGI2, SETD2, TBL1XR1, TCF4, ATRX, PHF6, PAK3, KDM5C, CUL4B, SETBP1, ZEB2, HGF, ERCC2, ERCC3, DIAPH1, DNMT1, PAX3, SOX10, KCNQ1, PTPRQ, CDC14A, FGF3, GATA3, ROR1, DIAPH3, MID1, MED12, FOXP2, FOXP1, EHMT1, CACNA1C, ARID1B, CTNNB1, LZTR1, FAT4, KAT6B, GATA1, RPL5, RASA1, FOXP3, PHF8, AFF2, FANCB, DKC1, USP9X, RBM10, BRWD3, TAF1, SOX3, KLF8, ZMYM3, CDK16, RAB23, POR, TWIST1, SOX9, SPRED1, MTOR, ABCB1, GLI2, ATR, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, PRDM5, ACVR1, DNMT3A, NFIX, EZH2, GLI3, CACNB2, PKP2, MITF, RYR2, KCNJ5, AKAP9, TP63, KDM6A, TFG, CTNNA1, CDH3, MAF, TERC, BMPR1B, TERT, SMAD9, CSF2RA, CSF2RB, NKX2-1, ACTC1, PRDM16, NKX2-5, TNNI3, PRKAG2, DSG2, JUP, TPM1, TNNT2, DSC2, MYL2, MYL3, NEK2, NEK9, RIPK4, ERBB3, ARID2, SMARCE1, HELLS, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, NT5C2, VEGFC, TEK, FLT4, SH2D1A, FGF10, PRSS1, WNK3, MBD3, MBD1, ACE, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, DBH, NHP2, NOP10, GNAS, NR3C2, WNT1, CREB3L1, SMAD2, NOD2, KITLG, FANCA, FANCG, FANCF, FANCE, CYP2C19, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, STK3, SLC6A4, BDNF, VEGFA, ERCC4, THPO, USB1, NEK8, GLIS2, PIK3CA, MYCN, IL11RA, CSF1R, HMGCR, DRD2, SLC6A3, ACVR2B, APOA1, PCSK9, APOB, POLD1, GREM1, ABCG1, ABCA1, AKT2, PAX4, BLK, GLIS3, GATA6, GGCX, GNAQ, TBXAS1, HOXA11, GFI1B, RARB, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, CD40LG, IL7R, ZAP70, ABRAXAS1, POLE, AXIN2, GNA11, INSR, PIK3R2, AKT3, AKT1, EXT2, EXT1, FAS, ELANE, XIAP, FASLG, ITK, G6PC3, GFI1, RAC2, STAT5B, PTPRC, BCR, PIK3CD, NFKBIA, FADD, AIP, CIITA, IL12RB1, STK4, NFKB2, ABCC2, CTLA4, IL10RA, VKORC1, PIK3R1, ICOS, IL10RB, PRKDC, TYK2, NOTCH2, EPOR, TRAF3, POT1, CARD11, SAMD9, PRMT7, NTRK2, WNT5A, NFIA, IL2RA, NKX2-2, MNX1, ZBTB20, ZNF423, CCND2, ESCO2, HOXA13, DHH, DNMT3B, ROR2, WNT4, WNT7A, MAP3K1, IRF6, ICK, NEK1, FSHR, MAMLD1, FGF17, CDK5, SRC, RUNX1T1, FLI1, CENPE, CDK6, ZMYND11, SETD5, CLIP1, CTCF, CRBN, ERF, TCF12, CDC6, PLK4, WRN, PLAGL1, ASXL3, PAX8, CYP2R1, CDH7, DICER1, PDGFRB, PDGFB, KMT2B, CAMTA1, ERCC5, FGF12, MAPK10, XPA, PRDM8, RAD51, BUB1B, GALNT12, NSD2, HOXD13, NKX3-2, ALOX12B, CYLD, CTNNA3, FLG, NLRP1, FLT1, KDR, WNT10A, ZNF384, TNFAIP3, NCSTN, LYN, PSENEN, CARD8, HTR1A, PLCG2, GATA5, KDSR, B2M, ASCL1, GDNF, CUL3, WNK4, LIFR, SLCO1B1, SLCO1B3, VAV1, BLNK, CD79A, CD79B, CYP2C9, NGF, HOXD10, HLA-B, KEL, DHFR, HOXB13, DDX3X, KAT6A, GRB10, HOXA3, CDK19, MAP3K3, RBPJ, XPC, HR, FGF9, TMC6, CYP1A2, TMC8, TWIST2, NR3C1, IGF1, CCND1, SLC26A3, BCL2, HDAC4, TBX3, CDK12, PRPF40B, ARID5B, CEBPE, MTAP, DDB2, DUSP22, ABL2, NFKB1, IL21R, SMAD6, MALT1, FBXW11, MLH3, ETV5, IGF1R, WNT10B, MDM2, DDR2, RNF213, CTNNA2, PALLD, EGF, SOX17, MAFB, AURKC, PML, MSH3, DEK, TRAF3IP2, IL17RA, ROBO2, PICALM, WNT3, ERBB2, CBFB, PAX9, ERCC1, RARA, TCF3, PBX1, ZBTB16, TAL1, AFF3, CYP3A4, NUP214, ADRB2, MN1, NAT2, MLLT3, EPHA2, MLLT1, CDKN2B, PTPRF, FGF20, PTCH2, YWHAE, SMO, LRP6, BCL6, MYC, BIRC3, RPN1, MECOM, CKS1B, CDKN2C, IGF2R, IHH, HOXC13, OSMR, DCC, RNF43, DVL1, TBX18, CYP2A6, CYP4F2, RXRA, GPC5, TNK2, FAT1, NUP93, PRRX1, MAP3K8, MAD2L2, CD70, CHD1L, PRDM12, NONO, NRTN, PRDM13, AXL, KDM1A, SMARCD2, BCL11A, PRLR, CBX2, BRDT, CHD4, TET1, MAPK8, CIC, MAP3K7, TRIO, ASH1L, KMT5B, KAT2B, HDAC6, PPP2R1A, JMJD1C, ERBB4, NKX2-6, TBX22, EED, DVL3, CTNND1, TRAF3IP1, KDM6B, CNKSR1, KDM5A, SETD1A, PARP1, NRIP1, EIF1AX, RICTOR, RAC1, PRKD1, MXD1, DACH1, STAT2, GLI1, BRD2, ELK1, IGF2, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, EML4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, PEAR1, CRHR1, STAG1, SS18L1, ESR1, NTF4, RRM1, CYP3A5, BCL10, KLF6, ADAM17, PHIP, CYP2B6, CDK11A, YAP1, XBP1, TLR5, LCK, IKBKB, ARNT2, INHBA, MLF1, CRLF2, ABI1, EGR1, PTPRT, MYBL2, SLC19A1, ADRB1, AXIN1, UBR5, ELP3, EWSR1, TAF15, PRKAR1B, DRD1, FGF16, SP110, RHOH, PAX1, CHD1, RBMXL2, PRDM9, ESR2, SMAD1, PERP, PPARA, TRIB1, EPHB4, SOX1, SEM1, PAX7, IL17RC, MAP3K14, DOCK2, SPRY2, CRK, GAB2, MAPK1, PIK3CB, CRKL, PIK3CG, TRAF6, FOXA2, FOXA1, FOLH1, RBM15, TBL1X, HTR2A, HSD3B1, BAX, PAK5, ABCG2, CHUK, CD44, CSNK1D, CREB1, FKBP5, GLCCI1, IL23R, IL4R, IRS2, HMGA1, IRF4, IRS1, HMGA2, PGR, IRF5, IL6R, MIPOL1, SMAD7, TLR2, TLR1, DIAPH2, EPHB2, ZNF750, ALOX5, MAD1L1, PRKACA, NR4A2, POU6F2, PPM1D, TCF7L2, SSTR5, RAD54L, RAD54B, PTGIS, GRB7, GRM3, GRK5, GRM8, GSK3B, GRK4, GPS2, GRB2, MYOD1, CBFA2T2, CBX8, NAB2, MYBL1, CDC20, NEK10, NFKBIE, CCNE2, NEK3, CDC25A, NOTCH2NLA, CDC25B, CDH2, NPR1, NCK2, NOTCH4, NFKBID, NCOA3, CDK9, CDK17, CDC25C, CDX2, CD80, CBX5, NFATC4, CD28, CES2, CDK14, CBX6, CCNB3, CCNL1, CDK2, CDK7, NEK5, CDH5, CEBPZ, CDH11, CDK20, CBX4, MYB, NKX2-3, NCK1, CDKN3, NQO1, NFATC1, CECR2, CDK3, CD22, CD1D, NKX3-1, NFIB, NEK7, NEK6, CDH20, CDKN1A, CDK10, CCND3, NEK4, CDK8, CDC42, NAB1, CDK1, NFATC3, CD276, MTDH, CDH10, CD86, NCOA1, CDK18, NEK11, NPPB, CDK15, CEBPG, CBX1, NCOR1, CD274, NCOA2, NFKBIZ, FLT3LG, FUBP1, GAB1, FRK, FOXO3, FRS3, FOS, FYN, FOSL2, FZR1, GABPA, FRS2, FOXP4, FOXO4, FOXN3, FOXL1, FOXA3, FOXM1, FGF2, ETS1, ETV2, FGF5, FGF18, TENT5C, FAT2, EXTL1, FEN1, FHIT, FER, FES, ETV3, ERG, ESRRA, FGF1, FGF7, EZH1, ETV7, ETS2, FBXO11, EREG, ESCO1, ESPL1, FBXO8, FGF6, ETV3L, FGR, FEV, FAT3, EPHA7, PHF1, ELF3, ELF2, DVL2, E2F3, ELF4, ECT2L, DNMT3L, PDS5B, EPHB3, EPGN, DMXL1, EPHA4, EPHA8, EHMT2, PHF2, EPHA5, EHF, EPHB6, PEG3, DYRK2, ELK3, ELF1, EPHA1, DOT1L, EBF1, E2F7, EPHA3, E2F6, ELF5, ELK4, EPHB1, PDCD1LG2, PDGFD, DCUN1D2, CYP2C8, DAXX, DDIT3, PBRM1, PDCD1, DIRAS3, DDX5, PBX2, PAXIP1, CYP2J2, PCBP1, DIS3, PAK6, PAK4, PARP2, PDGFC, DDR1, PATZ1, DDX6, DCUN1D1, PARP4, PAK1, CRTC2, CTCFL, CREB3L4, CREM, CSK, CTSS, COPS3, CSNK1E, CRTC3, CRTC1, CTSL, CSF1, CNTFR, CHD6, NUMB, NUP98, CNOT3, CARD10, NRG3, CHD3, CHIC2, CARD6, MSH4, CADM2, CHD9, NUMBL, CHEK1, NUTM2G, CMPK1, MST1, ODC1, MST1R, CHD5, CAPRIN2, NUTM1, NUTM2F, NR4A1, MAP2K6, MAU2, MAP4K1, MAP3K4, MAP3K15, BRPF1, MAD2L1, BTG2, BRPF3, BRD1, MAP3K5, MRTFB, MED29, MAPK9, BCL7A, MAP4K4, MLST8, BMI1, MAPK4, MAP4, BID, BRD9, BIRC5, MAML2, EMSY, BRD8, MED12L, BRD7, BRWD1, BCLAF1, MAP3K12, MAPK15, MAP3K2, MOS, MAML3, MAP3K19, MCL1, BTC, MAPK7, BIRC2, MRTFA, MOB1A, MAP2K7, BTRC, BRD3, MAP4K5, BCL9, MAP4K3, MAGED1, MAP2K4, MAP3K9, MATK, MAML1, MLLT10, MDM4, MAST2, MAP3K13, BUB1, BPTF, MAP4K2, MAPK6, MAST1, MAP2K3, MINK1, MAP2K5, MLLT11, MOB1B, MGA, BIRC8, MPG, BCL2A1, BABAM1, ARHGAP26, LGR4, ARFRP1, LATS2, ATAD2B, ASH2L, LDB1, ASCL4, ASCL3, BCAR3, LATS1, ATF1, LMO1, AURKB, BCL2L2, ATAD2, BACH1, ARPC1A, LMTK3, ARHGAP35, ASXL2, LMTK2, LMO7, BACH2, BAZ2B, BCL2L11, BAZ2A, ARNT, LSM1, LPP, APH1A, LGR5, LGR6, LEF1, BAZ1A, LRP1B, APEX1, ASPSCR1, LTK, BAG4, BAZ1B, ARPC1B, JARID2, JMJD4, IL20RB, ITPKB, KDM4A, HNRNPA3, HSP90AA1, HSP90AB1, IKZF3, IL22RA1, IL22RA2, ID2, IFNLR1, JMJD6, IQGAP1, IL3, KMT2E, KLF12, KDM3A, IL17RB, INPP4B, IQGAP2, ING1, IL18R1, IKBKE, JAZF1, IL6ST, KDM4B, KDM5B, HOXB3, IL20RA, HOXA9, ING4, JMJD8, MAP3K21, KDM8, IL1R1, JMJD7, HSPBAP1, IRS4, KMT5A, INTS12, HOXC10, KAT7, KDM1B, HOXA10, IRAK1, KDM4C, KLF5, JUN, KAT2A, JAK1, IL12RB2, KDM4D, KDM2B, ID3, KDM3B, KAT8, HOXD4, IL1RAP, KDM7A, IL5RA, IKBIP, KDM2A, IQGAP3, IL1R2, JUNB, ID1, IKZF2, HOXD3, JADE1, AJUBA, IL18RAP, HDAC7, HCK, HDAC11, HIF1A, HDAC2, HIST1H4E, HDAC10, HIST1H1E, GTPBP4, HEY1, HDAC9, HDAC3, HDGF, HBEGF, HDAC1, HIF1AN, HIST1H3B, HEY2, HLTF, PHLPP2, PIK3C3, PRDM1, PIM2, POU5F1, PLK1, PRMT1, PRDM2, PMAIP1, PIM1, POU5F2, PLK3, POU2AF1, PIK3C2A, POU5F1B, PRMT6, PPARD, PPFIA1, PRDM6, PIK3R3, PRSS3, PLAGL2, PRDM7, PRDM11, PPP1R1C, PREX2, POU6F1, PLK2, PRDM14, PRKCI, PNRC1, PIK3C2B, PRMT3, PRCC, PRMT8, PRDM4, PIK3R4, PLCG1, PLAG1, PRDM10, PIK3C2G, PRMT5, UHRF1, VTCN1, TOP2B, TRIM66, VAV3, TSHZ3, UBE2D4, TMPRSS2, VGLL1, U2AF2, UBE2D1, VEGFB, TRAF1, UGT1A4, TOP2A, TPTE, UBE4A, TNFRSF14, TRIB2, TRRAP, TLR9, TP53BP1, UHRF2, TYRO3, TRAF3IP3, TRIB3, TNK1, TXK, UBE2D2, TRAF7, TNFRSF17, VAV2, VHLL, TLX2, WAPL, TRAF2, TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH, WNT6, YWHAB, WISP1, ZNF607, TLR10, WNT16, WWTR1, WNT7B, TGFA, WNT8B, WNT5B, ZMYND8, WNT2, TLR8, TLK2, ZC3H7B, ZNF471, ZNF668, WNT2B, NSD3, TLR7, WNT11, ELOC, TBX2, SSX3, SPIC, SRGAP3, STAT4, KMT5C, SMURF2, SULT1A1, SP100, SOX8, SS18, SSX1, TFEC, SPOP, TCF7, SP140, SPRED2, STAT5A, TERF1, SPI1, SP140L, TEAD2, TENM2, SMYD4, TET3, SMC5, SLCO1A2, SOCS1, SLIT2, SPEN, STYK1, TAF1L, SP3, SPOPL, TEAD4, SSTR2, SMARCA5, STK19, TEAD3, SLCO2B1, TAOK1, SMC1B, SPDEF, TCL1A, SYK, TAOK2, SUV39H2, SMC4, SMYD5, STARD3, SMYD3, TEC, TCF7L1, STK36, SMC6, SSTR1, SMAD5, SUV39H1, STAT6, SLC47A2, SSTR3, SMC2, SLC47A1, TAOK3, RSPO2, SKOR1, RIPK3, RYK, SETD9, SETD3, RPA1, RPS6KB2, SLC15A2, REL, SETDB1, ROCK1, SETMAR, REC8, RHOB, RHEB, RSPO3, SAV1, SKP2, SLC22A1, ROCK2, SH3GL1, SLC22A6, SETD4, SHC1, SHC4, SLC22A2, RIPK1, RELA, SF3A1, RNF40, SF1, SGO1, SLC22A3, SETD7, RHOT1, SFRP1, SGO2, SETDB2, RIPK2, RUVBL1, SGK1, SKIL, RPS6KB1, RUNX3, SHB, SETD1B, RAB25, PTK6, PTPRB, PVT1, PRSS8, PTK7, RAD52, RBM14, PTPRJ, RAD51B, PTPRR, PTGS1, PTTG1, PTPRG, PSIP1, RAD51AP1, PTGS2, PTK2, PTK2B, PTPRM, PTPRK, PTPN21, PTPN2, PSPN, RABEP1, PTPRD, PTPN6, ADGRL2, ADGRB3, ADAMTS20, ACVR1B, ACSL6, ACVR2A, AATK, ABCC1, AFF1, AHR, ADGRL3, ADGRA2, BTG1, SET, BCL3, ETV1, FOXO1, TFE3, CREB3L2, MSI2, NR4A3, SSX4, TFEB, ETV4, SSX2, NUTM2A, NUTM2B, HLA-A, BCL11B, CDK13, KLF4, H3F3A, BCL2L1, RHOA, HES1, FGF19, NCOR2, SUZ12, SMARCA1, FGF4, MAP3K6, TOP1, AURKA, MEF2B, ZNF703, GID4, MAPK3, TRIM33, WIF1, SFPQ, LYL1, MDS2, RAP1GDS1, LMO2, HOXC11, TAL2, MLLT6, HLF, OLIG2, CBFA2T3, CCDC6, TLX1, HOXD11, MTCP1, NKX2-8, ICOSLG, USP9Y, CES1, PDPK1, POU2F2, YEATS4, TBC1D12, FOXQ1, ZNRF3, PPP6C, RELB, CDX1, E2F5, TRIM24, SMYD2, HDGFL3, MAPK12, EPHA6, SMARCD1, VEGFD, ASCL5, GFRA4, PRRX2, KDM5D, PBX3, BMX, MAPK11, VGLL2, FGF21, CKS2, JUND, CDK11B, TRIM28, CHIC1, TEF, WNT9A, UTY, CUL4A, SMARCC1, SOX21, NRG2, GLIS1, CASC11, WASL, KHSRP, PAK2, MAP3K11, PDGFA, MAP3K10, PIM3, SETD6, MAPK14, ASCL2, HES2, NKX2-4, BTG3, DACH2, PDS5A, CBX3, NRG4, MAPK13, IL3RA, ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1, ID4, FGF22, ZNF444, FKBP9, HDAC5, IL2RB, TCL1B, IL9R, NFIC, CEBPD, HES4, IL13RA1, SHC3, CBX7, BUB3, INSRR, WNK2, ARTN, SSTR4, PHLPP1, GUCY1A2, FOSB, SMURF1, BBC3, SRMS, PGF, NFKBIB, FGF13, KAT5, PBX4, PRKACB, AREG, CEBPB, E2F1, PRDM15
Specificity
1 %
Genes
100 %
|
WAS-Related Disorders: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
WAS
Specificity
100 %
Genes
100 %
|
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)
View the complete list with 123 more genes
BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, KIF1B, SDHC, FH, FAH, SDHB, NDUFA13, RNASEL, TMEM127, MEN1, SDHA, FANCC, BLM, TINF2, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, RTEL1, WAS, NTRK1, NF1, CYP21A2, ERCC2, ERCC3, FANCB, DKC1, ATR, ANTXR2, TGFBR1, GLI3, MITF, LYST, TERT, ERCC6, SMARCA4, SMARCB1, GLMN, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, CDKN1B, ERCC4, PIK3CA, POLD1, PDGFRA, POLE, AXIN2, AKT1, EXT2, EXT1, LIG4, AIP, KLHDC8B, ESCO2, RSPO1, CD96, WRN, DICER1, ERCC5, XPA, BUB1B, GALNT12, CYLD, KDR, RHBDF2, ANTXR1, XPC, PDE11A, TMC6, TMC8, UROD, POLH, MTAP, DIS3L2, DDB2, MLH3, PALLD, PTCH2, XRCC3, MSR1, ASCC1, MSMB, EPHB2, POU6F2, EHBP1, RAD51B
Specificity
1 %
Genes
100 %
|
WAS-Related Disorders: gene deletion/duplication.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
WAS
Specificity
100 %
Genes
100 %
|