Analiza tuturor genelor cunoscute asociate cu sindroamele neoplazice ereditare.
Cerințe specimen: minim 20% conținut tumoral
- 1-2 ml sânge EDTA
Durată trimitere rezultate:
- 4-6 săptămâni
Seturile de gene – sindrome neoplazice
Cancer colorectal – APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PMS2, POLD1, POLE, PTEN, RINT1, RNF43, RPS20, SCG5, SMAD4, STK11, TP53
Cancer colorectal polipozic ereditar – APC, BMPR1A, CHEK2, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SCG5, SMAD4, STK11
Cancer colorectal non-polipozic ereditar/sindromul Lynch – EPCAM, MLH1, MSH2, MSH6, PMS2
Cancer ovarian și mamar – ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, POLD1, POLE, PTEN, RAD51C, RAD51D, TP53
Cancer ovarian și mamar extins – ABRAXAS1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, HOXB13, MEN1, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTCH1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHC, SDHD, SLX4, STK11, TP53, XRCC2
Cancer de prostată – ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, TP53
Tumorile sistemului nervos central – AIP, ALK, APC, BRCA2, KIF1B, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PHOX2B, PMS2, PTEN, SDHA, SDHB, SDHD, SMARCA4, SMARCB1, SMARCE1, SPRED1, SUFU, TP53, VHL
Cancer pancreatic – APC, ATM, BRCA1, BRCA2, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, PALB2, PALLD, PMS2, STK11, TP53, VHL
Cancer renal – BAP1, CCND1, CDC73, CDKN1C, CHEK2, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, WT1
Melanom – BAP1, BRCA2, CDK4, CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS2, POT1, PTEN, RB1, TP53
Cancer gastric – BRCA2, CDH1, CHEK2, EPCAM, IL1B, IL1RN, KIT, MLH1, MSH2, MSH6, PDGFRA, PMS2
Tumori stromale gastrointestinale – KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD
Cancer pulmonar – ATM, BRCA1, BRCA2, CHEK2, EGFR, TP53