Panel de cáncer hereditario expandido

Ficha técnica

Tecnología

NGS

Cobertura

200 genes: ABRAXAS1, ACD, ACVR1B, ACVR2A, ACVRL1, AIP, AKT1, ALK, APC, AR, ARID1A, ASXL1, ATM, ATR, ATRX, AXIN2, B4GALT3, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CBFB, CCND1, CDC73, CDH1, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2C, CEBPA, CHEK2, CREBBP, CTNNA1, CTNNB1, DDB2, DDX41, DICER1, DIS3L2, DNMT3A, EGFR, EGLN1, EP300, EPCAM, EPHA3, EPHB6, ERBB2, ERBB4, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, EZH2, FANCC, FANCG, FANCM, FBXW7, FGF4, FGFR2, FGFR3, FH, FLCN, FLT3, FOXA1, FOXA2, GALNT12, GATA2, GATA3, GPC3, GREM1, HGF, HNF1A, HNF1B, HOXB13, HRAS, IDH1, IDH2, IPMK, KDM5C, KDM6A, KIF1B, KIT, KMT2D, KRAS, LIFR, LRRK2, LZTR1, MAP2K4, MAP3K1, MAPK8IP1, MAX, MC1R, MECOM, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NOTCH1, NPM1, NRAS, NSD1, NTHL1, PALB2, PDGFRA, PHF6, PHOX2B, PIK3CA, PIK3R1, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRKAR1A, PRSS1, PRX, PTCH1, PTCH2, PTEN, PTPN11, RAD21, RAD50, RAD51C, RAD51D, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RNF43, RPL5, RPS20, RUNX1, SAMD9L, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SLX4, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX17, SOX9, STK11, SUFU, TAF1, TBL1XR1, TBX3, TERC, TERF2IP, TERT, TET2, TGFBR2, TLR4, TMEM127, TP53, TRIP13, TSC1, TSC2, USP9X, VHL, WRN, WT1, XPA, XPC, XRCC2, XRCC3, YAP1.