Cáncer Hereditario

Realizamos busquedas de mutaciones puntuales, secuenciación de genes y paneles según la necesidad del paciente.

Adjuntamos lista de algunos de los estudios estándar más solicitados.

Cáncer Comprehensive Panel NGS ABL1, ABL2, ACVR2A, ADAMTS20, AFF1, AFF3, AKAP9, AKT1, AKT2, AKT3, ALK, APC, AR, ARID1A, ARID2, ARNT, ASXL1, ATF1, ATM, ATR, ATRX, AURKA, AURKB, AURKC, AXL, BAI3, BAP1, BCL10, BCL11A, BCL11B, BCL2, BCL2L1, BCL2L2, BCL3, BCL6, BCL9, BCR, BIRC2, BIRC3, BIRC5, BLM, BLNK, BMPR1A, BRAF, BRD3, BRIP1, BTK, BUB1B, CARD11, CASC5, CBL, CCND1, CCND2, CCNE1, CD79A, CD79B, CDC73, CDH1, CDH11, CDH2, CDH20, CDH5, CDK12, CDK4, CDK6, CDK8, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHEK1, CHEK2, CIC, CKS1B, CMPK1, COL1A1, CRBN, CREB1, CREBBP, CRKL, CRTC1, CSF1R, CSMD3, CTNNA1, CTNNB1, CYLD, CYP2C19, CYP2D6, DAXX, DCC, DDB2, DDIT3, DDR2, DEK, DICER1, DNMT3A, DPYD, DST, EGFR, EML4, EP300, EP400, EPHA3, EPHA7, EPHB1, EPHB4, EPHB6, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ESR1, ETS1, ETV1, ETV4, EXT1, EXT2, EZH2, FAM123B, FANCA, FANCC, FANCD2, FANCF, FANCG, FAS, FBXW7, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FN1, FOXL2, FOXO1, FOXO3, FOXP1, FOXP4, FZR1, G6PD, GATA1, GATA2, GATA3, GDNF, GNA11, GNAQ, GNAS, GPR124, GRM8, GUCY1A2, HCAR1, HIF1A, HLF, HNF1A, HOOK3, HRAS, HSP90AA1, HSP90AB1, ICK, IDH1, IDH2, IGF1R, IGF2, IGF2R, IKBKB, IKBKE, IKZF1, IL2, IL21R, IL6ST, IL7R, ING4, IRF4, IRS2, ITGA10, ITGA9, ITGB2, ITGB3, JAK1, JAK2, JAK3, JUN, KAT6A, KAT6B, KDM5C, KDM6A, KDR, KEAP1, KIT, KLF6, KRAS, LAMP1, LCK, LIFR, LPHN3, POT1, LPP, LRP1B, LTF, LTK, MAF, MAFB, MAGEA1, MAGI1, MALT1, MAML2, MAP2K1, MAP2K2, MAP2K4, MAP3K7, MAPK1, MAPK8, MARK1, MARK4, MBD1, MCL1, MDM2, MDM4, MEN1, MET, MITF, MLH1, MLL, MLL2, MLL3, MLLT10, MMP2, MN1, MPL, MRE11A, MSH2, MSH6, MTOR, MTR, MTRR, MUC1, MUTYH, MYB, MYC, MYCL1, MYCN, MYD88, MYH11, MYH9, NBN, NCOA1, NCOA2, NCOA4, NF1, NF2, NFE2L2, NFKB1, NFKB2, NIN, NKX2-1, NLRP1, NOTCH1, NOTCH2, NOTCH4, NPM1, NRAS, NSD1, NTRK1, NTRK3, NUMA1, NUP214, NUP98, PAK3, PALB2, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM, PBX1, PDE4DIP, PDGFB, PDGFRA, PDGFRB, PER1, PGAP3, PHOX2B, PIK3C2B, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIM1, PKHD1, PLAG1, PLCG1, PLEKHG5, PML, PMS1, PMS2, POU5F1, PPARG, PPP2R1A, PRDM1, PRKAR1A, PRKDC, PSIP1, PTCH1, PTEN, PTGS2, PTPN11, PTPRD, PTPRT, RAD50, RAF1, RALGDS, RARA, RB1, RECQL4, REL, RET, RHOH, RNASEL, RNF2, RNF213, ROS1, RPS6KA2, RRM1, RUNX1, RUNX1T1, SAMD9, SBDS, SDHA, SDHB, SDHC, SDHD, SEPT9, SETD2, SF3B1, SGK1, SH2D1A, SMAD2, SMAD4, SMARCA4, SMARCB1, SMO, SMUG1, SOCS1, SOX11, SOX2, SRC, SSX1, STK11, STK36, SUFU, SYK, SYNE1, TAF1, TAF1L, TAL1, TBX22, TCF12, TCF3, TCF7L1, TCF7L2, TCL1A, TET1, TET2, TFE3, TGFBR2, TGM7, THBS1, TIMP3, TLR4, TLX1, TNFAIP3, TNFRSF14, TNK2, TOP1, TP53, TPR, TRIM24, TRIM33, TRIP11, TRRAP, TSC1, TSC2, TSHR, UBR5, UGT1A1, USP9X, VHL, WAS, WHSC1, WRN, WT1, XPA, XPC, XPO1, XRCC2, ZNF384, ZNF521
Breast cfDNA assay Gen NGS  
Cáncer Colorrectal Hereditario No Polipósico Panel NGS MLH1, MSH2, MSH6
Cáncer Colorrectal Hereditario No... Panel NGS MLH1,MSH2,MSH6,PMS2
Cáncer Colorrectal Hereditario No... Gen NGS MSH2 
Cáncer Colorrectal Hereditario No... Gen NGS MSH6 
Cáncer de mama (incluye genes de baja... Exoma Dirigido BRCA1, BRCA2, ATM, TP53, BRAF, CHEK2, PTEN
Cáncer de mama familiar Gen NGS PALB2 
Cáncer de mama familiar Gen NGS  
Cáncer de mama familiar Gen NGS BRCA1 y BRCA2 (NGS + MLPA)
Cáncer de mama familiar Exoma Dirigido ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MRE11, MSH2, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, XRCC2.
Cáncer de mama familiar (muestras en... Gen NGS BRCA1, BRCA2
Cáncer de mama familiar 3 Gen NGS RAD51C 
Cáncer de Pulmón y Cólon Exoma Dirigido KRAS, EGFR, BRAF, PIK3CA, AKT1, ERBB2, PTEN, NRAS, STK11,MAP2K1, ALK, DDR2, CTNNB1, MET, TP53, SMAD4, FBXW7, FGFR3, NOTCH1, ERBB4, FGFR1, FGFR2
Cáncer de pulmón  Gen NGS EGFR 
Cáncer Gástrico Familiar  Gen NGS CDH1
Cáncer Hotspot Panel NGS ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAS, GNAQ, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL
Carcinoma Adrenocortical Pediátrico  Gen NGS TP53 
Carcinoma Medular de Tiroides Familiar  Gen NGS RET 
Comprehensive Cancer, Panel Gen NGS exons of 409 tumor suppressor genes and oncogenes frequentlycited and frequently mutated
Displasia cortical focal aislada  Gen NGS TSC1 
Hematooncología Panel NGS JAK2, MPL, CALR
Hipoplasia de células de Leydig  Gen NGS LHCGR 
Leiomiomas Cutáneos y Uterinos Múltiples  Gen NGS FH 
Leiomiomatosis Familiar con Carcinoma Renal  Gen NGS FH 
Lynch tipo I, Síndrome Gen NGS PMS1 
Lynch tipo IV, Síndrome Gen NGS PMS2 
Lynch, Síndrome Gen NGS MLH1 
Lynch, Síndrome Panel NGS MLH1, MSH2, MSH6, PMS2, EPCAM
Melanoma Hereditario  Gen NGS CDKN2A
Melanoma Hereditario  Gen NGS CDK4
Neoplasia endocrina múltiple tipo 1 Gen NGS  
Panel mutaciones somáticas Gen NGS EGFR, BRAF, ERBB2 (HER2), ALK, ROS1, RET, MET, KRAS, NRAS, KIT, PDGFRA.
Paraganglioma hereditario Panel NGS SDHD, SDHB, SDHC, SDHA, SDHAF2, VHL
Schwanomatosis  Gen NGS SMARCB1 
Tumor de Wilms  Gen NGS WT1 
Tumor de Wilms  Gen NGS CTNNB1 
Tumor estromal gastrointestinal esporádico... Gen NGS KIT
Von Hippel Lindau, síndrome  Gen NGS VHL