< Volver

Perfil de marcadores moleculares para tumores sólidos

Especialidad Oncología
Código Único E799
Técnica NGS
Genes / Variantes Alterações tipo SNV, indel e CNV (DNA):
ABL1, BMPR1A, CSNK1A1, ETS1, GABRA6, IFNGR1, MAP3K14, NRAS, PPP2R1A, RYBP, TCF7L2, ABL2, BRAF, CTCF, ETV1, GATA1, IGF1, MAP3K4, NRG1, PPP2R2A, SDHA, TENT5C, ABRAXAS1, BRCA1, CTLA4, ETV4, GATA2, IGF1R, MAPK1, NSD1, PPP6C, SDHAF2, TERC, ACVR1, BRCA2, CTNNA1, ETV5, GATA3, IGF2, MAPK3, NTRK1, PRDM1, SDHB, TERT, ACVR1B, BRD4, CTNNB1, ETV6, GATA4, IKBKE, MAX, NTRK2, PREX2, SDHC, TET1, ADGRA2, BRIP1, CUL3, EWSR1, GATA6, IKZF1, MCL1, NTRK3, PRKAR1A, SDHD, TET2, AKT1, BTG1, CUX1, EZH2, GEN1, IL10, MDC1, NUP93, PRKCI, SETBP1, TFE3, AKT2, BTK, CXCR4, FANCA, GID4, IL7R, MDM2, NUTM1, PRKDC, SETD2, TFRC, AKT3, CALR, CYLD, FANCC, GLI1, INHA, MDM4, PAK1, PRKN, SF3B1, TGFBR1, ALK, CARD11, DAXX, FANCD2, GNA11, INHBA, MED12, PAK3, PRSS8, SH2B3, TGFBR2, ALOX12B, CASP8, DCUN1D1, FANCE, GNA13, INPP4A, MEF2B, PAK7, PTCH1, SH2D1A, TMEM127, AMER1, CBFB, DDX41, FANCF, GNAQ, INPP4B, MEN1, PALB2, PTEN, SHQ1, TMPRSS2, ANKRD11, CBL, DHX15, FANCG, GNAS, INSR, MET, PARP1, PTPN11, SLIT2, TNFAIP3, ANKRD26, CCN6, DICER1, FANC, GPS2, IRF2, MGA, PAX3, PTPRD, SLX4, TNFRSF14, APC, CCND1, DIS3, FANCL, GREM1, IRF4, MITF, PAX5, PTPRS, SMAD2, TOP1,AR, CCND2, DNAJB1, FAS, GRIN2A, IRS1, MLH1, PAX7, PTPRT, SMAD3, TOP2A, ARAF, CCND3, DNMT1, FBXW7, GRM3, IRS2, MLLT3, PAX8, QKI, SMAD4, TP53, ARFRP1, CCNE1, DNMT3A, FGF1, GSK3B, JAK1, MPL, PBRM1, RAB35, SMARCA4, TP63, ARID1A, CD274, DNMT3B, FGF10, H1-2, JAK2, MRE11, PDCD1, RAC1, SMARCB1, TRAF2, ARID1B, CD276, DOT1L, FGF14, H2BC5, JAK3, MSH2, PDCD1LG2, RAD21, SMARCD1, TRAF7, ARID2, CD74, E2F,3 FGF19, H3-3A, JUN, MSH3, PDGFRA, RAD50, SMC1A, TSC1, ARID5B, CD79A, EED, FGF2, H3-4, KAT6A, MSH6, PDGFRB, RAD51, SMC3, TSC2, ASXL1, CD79B, EGFL7, FGF23, H3-5, KDM5A, MST1, PDK1, RAD51B, SMO, TSHR, ASXL2, CDC73, EGFR, FGF3, H3C1, KDM5C, MST1R, PDPK1, RAD51C, SNCAIP, U2AF1, ATM, CDH1, EIF1AX, FGF4, H3C10, KDM6A, MTOR, PGR, RAD51D, SOCS1, VEGFA, ATR, CDK12, EIF4A2, FGF5, H3C11, KDR, MUTYH, PHF6, RAD52, SOX10, VHL, ATRX, CDK4, EIF4E, FGF6, H3C12, KEL, MYB, PHOX2B, RAD54L, SOX17, VTCN1, AURKA, CDK6, ELOC, FGF7, H3C13, KIF5B, MYC, PIK3C2B, RAF1, SOX2, WT1, AURKB, CDK8, EML4, FGF8, H3C14, KIT, MYCL, PIK3C2G, RANBP2, SOX9, XIAP, AXIN1, CDKN1A, EMSY, FGF9, H3C15, KLF4, MYCN, PIK3C3, RARA, SPEN, XPO1, AXIN2, CDKN1B, EP300, FGFR1, H3C2, KLHL6, MYD88, PIK3CA, RASA1, SPOP, XRCC2, AXL, CDKN2A, EPCAM, FGFR2, H3C3, KMT2A, NAB2, PIK3CB, RB1, SPTA1, YAP1, B2M, CDKN2B, EPHA3, FGFR3, H3C4, KRAS, NBN, PIK3CD, RBM10, SRC, YES1, BAP1, CDKN2C, EPHA5, FGFR4, H3C6, LAMP1, NCOA3, PIK3CG, RECQL4, SRSF2, ZBTB2, BARD1, CEBPA, EPHA7, FH, H3C7, LATS1, NCOR1, PIK3R1, REL, STAG1, ZBTB7A, BBC3, CENPA, EPHB1, FLCN, H3C8, LATS2, NEGR1, PIK3R2, RET, STAG2, ZFHX3, BCL10, CHD2, ERBB2, FLI1, HGF, LMO1, NF1, PIM1, RHEB, STAT3, ZNF217, BCL2, CHD4, ERBB3, FLT1, HNF1A, LRP1B, NF2, PLCG2, RHOA, STAT4, ZNF703, BCL2L1, CHEK1, ERBB4, FLT3, HNRNPK, LYN, NFE2L2, PLK2, RICTOR, STAT5A, ZRSR2, BCL2L11, CHEK2, ERCC1, FLT4, HOXB13, LZTR1, NFKBIA, PMAIP1, RIT1, STAT5B, BCL2L2, CIC, ERCC2, FOXA1, HRAS, MAGI2, NKX2-1, PMS1, RNF43, STK11, BCL6, COP1, ERCC3, FOXL2, HSD3B1, MALT1, NKX3-1, PMS2, RPS6KA4, STK40, BCOR, CREBBP, ERCC4, FOXO1, HSP90AA1, MAP2K1, NOTCH1, PNRC1, RPS6KB1, SUFU, BCORL1, CRKL, ERCC5, FOXP1, ICOSLG, MAP2K2, NOTCH2, POLD1, RPS6KB2, SUZ12, BCR, CRLF2, ERG, FRS2, ID3, MAP2K4, NOTCH3, POLE, RPTOR, SYK, BIRC3, CSF1R, ERRFI1, FUBP1, IDH1, MAP3K1, NOTCH4, PPARG, RUNX1, TAF1, BLM, CSF3R, ESR1, FYN, IDH2, MAP3K13, NPM1, PPM1D, RUNX1T1, TCF

Alterações tipo SV (Fusões) (RNA):
ABL1, BRAF, EML4, ETV4, FGFR4, KIF5B, MYC, NTRK2, PIK3CA, TMPRSS2, AKT3, BRCA1, ERBB2, ETV5, FLI1, KIT, NOTCH1, NTRK3, PPARG, ALK, BRCA2, ERG, EWSR1, FLT1, KMT2A, NOTCH2, PAX3, RAF1, AR, CDK4, ESR1, FGFR1, FLT3, MET, NOTCH3, PAX7, RET, AXL, CSF1R, ETS1, FGFR2, JAK2, MLLT3, NRG1, PDGFRA, ROS1, BCL2, EGFR, ETV1, FGFR3, KDR, MSH2, NTRK1, PDGFRB, RPS6KB1
Días de procesamiento 30 dias habiles
Documentos necesarios Consentimiento: DO.LA.17, DO.LA.26, Orden médica (firmado y sellado por el médico solicitante), copia del informe de anatomía patológica
Tipo, Cantidad mínima y conservación de muestra 4 (importante ver especificaciones en instructivo HSL)
Descripción

Este examen evalúa, en tejido tumoral parafinado, 508 genes que comprenden alteraciones tanto del ADN como del ARN tumoral. Este panel permite detectar inserciones, deleciones, fusiones, translocaciones y cambios en el número de copias de estos genes, además de proporcionar otros parámetros fundamentales para el tratamiento, como la carga mutacional y el estado de inestabilidad de microsatélites.
Descargar consentimiento DO.LA.17 Descargar consentimiento DO.LA.26