Neoplasias hematológicas
Catálogo: Catálogo genética médica con informe
Referencia: LV4228
Especialidad: Oncología de tumor sólido
Secuenciación masiva panel de 200 genes asociados a tumores pediátricos, sarcomas y neoplasias hematológicas, y su asociación a tratamiento. Que incluye:
Genes completos: APC, ARID1A, ARID1B, ATRX, CDKN2A, CDKN2B, CEBPA, CHD7, CRLF1, DDX3X, DICER1, EBF1, EED, FAS, GATA1, GATA3, GNA13, ID3, IKZF1, KDM6A, KMT2D, MYOD1, NF1, NF2, NSD2, PHF6, PRPS1, PSMB5, PTCH1, PTEN, RB1, RUNX1, SMARCA4, SMARCB1, SOCS2, SUFU, SUZ12, TCF3, TET2, TP53, TSC1, TSC2, WT1, XIAP
Mutaciones puntuales (hotspots): ABL1, ABL2, ACVR1, AKT1, ALK, ASXL1, ASXL2, BRAF, CALR, CBL, CCND3, CCR5, CDK4, CIC, CREBBP, CRLF2, CSF1R, CSF3R, CTNNB1, DAXX, DNMT3A, EGFR, EP300, ERBB2, ERBB3, ERBB4, ESR1, EZH2, FASLG, FBXW7, FGFR2, FGFR3, FLT3, GATA2, GNA11, GNAQ, H3-3A, H3C2, HDAC9, HRAS, IDH1, IDH2, IL7R, JAK1, JAK2, JAK3, KDM4C, KDR, KIT, KRAS, MAP2K1, MAP2K2, MET, MPL, MSH6, MTOR, NCOR2, NOTCH1, NPM1, NRAS, NT5C2, PAX5, PDGFRA, PDGFRB, PIK3CA, PIK3R1, PPM1D, PTPN11, RAF1, RET, RHOA, SETBP1, SETD2, SH2B3, SH2D1A, SMO, STAT3, STAT5B, TERT, TPMT, USP7, ZMYM3
Cambios en el número de copias (CNVs): ALK, BRAF, CCND1, CDK4, CDK6, EGFR, ERBB2, ERBB3, FGFR1, FGFR2, FGFR3, FGFR4, GLI1, GLI2, IGF1R, KIT, KRAS, MDM2, MDM4, MET, MYC, MYCN, PDGFRA, PIK3CA
Reordenamientos (traslocaciones/fusiones): ABL1, ABL2, AFF3, ALK, BCL11B, BCOR, BCR, BRAF, CAMTA1, CCND1, CIC, CREBBP, CRLF2, CSF1R, DUSP22, EGFR, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FLT3, FOSB, FUS, GLI1, GLIS2, HMGA2, JAK2, KAT6A, KMT2A, KMT2B, KMT2C, KMT2D, LMO2, MAML2, MAN2B1, MECOM, MEF2D, MET, MLLT10, MN1, MRTFA, MYB, MYBL1, MYH11, MYH9, NCOA2, NCOR1, NOTCH1, NOTCH2, NOTCH4, NPM1, NR4A3, NSD2, NTRK1, NTRK2, NTRK3, NUP214, NUP98, NUTM1, NUTM2B, PAX3, PAX5, PAX7, PDGFB, PDGFRA, PDGFRB, PLAG1, RAF1, RANBP17, RARA, RECK, RELA, RET, ROS1, RUNX1, SS18, SSBP2, STAG2, STAT6, TAL1, TCF3, TFE3, TP63, TSLP, TSPAN4, UBTF, USP6, YAP1, ZMYND11, ZNF384
