GENEMAP - PAINEL HEREDITÁRIO ONCOLÓGICO 204 GENES
Material
SANGUE TOTAL OU SWAB BUCAL
Meio(s) de Coleta
Sangue: Tubo com EDTA (roxo) Swab bucal: Kit coletor específico
Prazo
25 dias úteis
Realização
Segunda à sexta-feira
Volume Mínimo
4 mL
Método
SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
FORMULÁRIO OBRIGATÓRIO
RQ-0596 TERMO DE CONSENTIMENTO LIVRE E ESCLARECIDO PARA TESTE GENÉTICO
Interpretação
Doenças Relacionadas
Câncer peritônio, Câncer de endométrio, Síndrome de Li Fraumeni, Câncer colorretal, Polipose, Câncer de mama, Melanoma, Carcinoma, Cowden, Lynch, Câncer gástrico, Câncer de ovário, Câncer de próstata, Câncer de pâncreas
Genes analisados
A2ML1, ABRAXAS1, ACD, AIP, AKT1, ALK, APC, ARMC5, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMF, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CASP10, CBL, CDC73, CDH1, CDH23, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK1, CHEK2, COX4I1, CREBBP, CTC1, CTNNA1, CTNNB1, CTR9, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, DLST, DNAJC21, EGFR, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ETV6, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FBXW7, FGFR1, FH, FLCN, FOXE1, GALNT12, GATA1, GATA2, GPC3, HOXB13, HRAS, HSD3B2, IPMK, KIT, KRAS, LZTR1, MAD2L2, MAP2K1, MAP2K2, MAP3K1, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NHP2, NRAS, NSD1, NTHL1, PALB2, PAX5, PBRM1, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPP1CB, PPP2R2A, PRF1, PRKAR1A, PTCH1, PTCH2, PTEN, PTPN11, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RASA1, RASA2, RB1, RECQL, RECQL4, RET, RFWD3, RHBDF2, RIT1, RNASEL, RNF139, RNF43, RPS20, RRAS, RSPO1, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SETBP1, SH2B3, SH2D1A, SHOC2, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SPRED1, SPRED2, SPRTN, SRP72, STAT3, STK11, SUFU, TERC, TERF2IP, TERT, TET2, TGFBR2, TINF2, TMEM127, TOP3A, TP53, TRIM28, TRIP13, TSC1, TSC2, TYR, UBE2T, VHL, WAS, WRAP53, WRN, WT1, XAF1 (variante E134*), XPA, XPC, XRCC2