Target List
Covers all exons in all known transcripts of targeted genes based on the Human GRCh37 / hg19 genome build
Cancer Predisposition
Many Cancers
AKT1, APC, ATR, BLM, BRCA2, BRIP1, BUB1B, CHEK2 (RAD53), EPCAM, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, HRAS, LIG4, MLH1, MSH2, MSH6, PALB2, PIK3CA (p110-alpha), PMS2, PRKAR1A, PTEN, SLX4, TP53 (p53), VHL
Bone Cancers
EXT1, EXT2, MTAP, RECQL4, TP53 (p53)
Hereditary Breast-Ovarian Cancers
BARD1, BRCA1, BRCA2, CHEK2 (RAD53), RAD51B, RAD51C, RAD51D
Colorectal Cancers
APC, AXIN2, GALNT12, MLH3, MUTYH, POLD1, POLE
Endocrine Cancers
AIP, CDC73, CDKN1B (P27KIP1), CYP21A2, GLI3, MAX, MEN1, NDUFA13, NTRK1, PDE11A, PRKAR1A, RET, TMEM127, TP53 (p53), VHL
Gastrointestinal Tract Cancers
ASCC1, BMPR1A (ALK3), CDH1 (E-Cadherin), KIT (CD117), MSR1, PDGFRA, PTEN, RHBDF2, SDHC, SMAD4 (MADH4), STK11 (LKB1)
Head & Neck Cancers
CYLD, DKC1, RTEL1, TERC, TERT, TINF2, TSC1, TSC2
Hematopoietic Cancers
ATM, CEBPA, GATA2, KLHDC8B, LYST, MRE11, NBN, RAD50, RUNX1 (AML1), SBDS, TERT, WAS
Kidney Cancers
DIS3L2, FH, FLCN, MET, MITF, POU6F2, WT1
Liver Cancers
FAH, HFE, UROD
Nervous System Cancers
ALK, GPC3, KIF1B, NF1, NF2, PRKAR1A, RB1, PHOX2B, SDHA, SDHAF2, SDHB, SDHD, SMARCA4, SMARCB1, SUFU
Skin Cancers
BAP1, CDK4, CDKN2A (P16INK4A), CYLD, DDB2, ERCC2 (XPD), ERCC3 (XPB), ERCC4, ERCC5, ERCC6, FH, FLCN, GLMN, MC1R, MITF, MSH2, POLH, PTCH1, PTCH2, RSPO1, TGFBR1 (ALK5), TMC6, TMC8, XPA, XPC, XRCC3
Soft Tissue Cancers
ANTXR1, ANTXR2, CD96, ESCO2, KDR (VEGFR3), PTEN, WRN
Other Cancers
BRCA2, CHEK1, DICER1, EHBP1, EPHB2, MSMB, MSR1, PALB2, PALLD, RNASEL
Carrier Testing
Cardiac
DMD, KCNQ1
Cutaneous
COL1A2, COL7A1, EDA, EDN3, EDNRB, PLOD1, SOX10, UROS
Deafness
GJB2 (CX26), MYO7A
Developmental
ARX, CD96, DHCR7, MKS1, PEX7, RPGRIP1L, SLC26A2, ZIC3
Endocrine
CYP11A1, CYP21A2, CYP27B1, LHX3, POU1F1 (Pit-1), PROP1, STAR, TSHB
Hematologic
ADAMTS13, F11, F5, FANCC, HBB, PROC
Immunodeficiency
ADA, ATM, BLM, BTK, IL2RG, MEFV, NBN, WAS
Metabolic
ABCB11, ABCC8, ACADM, ACADS, ACADVL, AGA, AGL, AGPS, ALDOB, ASL, ASPA, ASS1, ATP7B, ATP8B1, BCKDHA, BCKDHB, BTD, CBS, CTNS, CTSK, CYP27A1, DBT, DLD, FAH, G6PC, GAA, GALT, GBA, GCDH, GLA, GLB1, GNPTAB, HADHA, HADHB, HFE, HGSNAT, IDUA, LRPPRC, MCCC2, MCOLN1, MMAB, MTHFR, MMUT, NPC1, NPC2, OTC, PAH, PSAP, SGSH, SLC37A4, SMPD1
Neurological
ABCD1, ADAMTS2, AHI1, ALDH3A2, ALS2, ARSA, ARX, ASAH1, ATP7A, Cep290, CLN3, CLN5, CLN6, CLN8, DCX, DMD, DNAJB2, EGR2, FGD4, FKRP, FKTN, FMR1, GLB1, HESX1, HEXA, HEXB, IGHMBP2, ELP1, L1CAM, LAMA2, MAPK10 (JNK3), MECP2, MFSD8, MPZ, MTM1, NEB, NPHP1, NTRK1, NUP62, PAX6, PDHA1, PEX1, PLEKHG5, PLP1, PMP22, POMGNT1, POMT1, PPT1, PRX, PSAP, TMEM67 (MKS3), TNNT1, TPP1, TRPV4, UBA1
Neuromuscular
AMPD1
Ocular
CDH23, Cep290, CHM, MYO7A, PCDH15, RS1, USH1C, USH1G
Renal
COL4A3, COL4A4, INVS, NPHP1, NPHP4, PKHD1, SCNN1A, SCNN1B, SCNN1G
Respiratory
CFTR
Skeletal
CRTAP, P3H1 (LEPRE1), SLC26A2