Analyses the variants in genes associated with the early development of different types of malignant neoplasms: frequent (Panel 01); both frequent and uncommon (Panel 02); and, paediatric (Panel 03). These panels are clinical tests aimed at facilitating an integral diagnosis of a variety of diseases associated with the susceptibility to hereditary cancer. They cover genes associated with the more common forms of cancer originated in the gastrointestinal tract, the endocrine and neuroendocrine systems, as well as organs like the lungs, kidneys, liver, pancreas, the skin, and the eyes. These panels seek to aid healthcare professionals in designing both preventive and therapeutic treatment strategies.
Between 10-15% of the more frequent forms of cancer are related to hereditary genetic mutations. This panel offers the sequencing of over 50 genes associated with hereditary cancers, such as: breast; ovarian; uterine; prostate; colorectal; gastric and pancreatic; Multiple Endocrine Neoplasia (Type 1 and Type 2); among others.
APC, ATM, AXIN2, BARD1, BMPR1A, BLM, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EGFR, EPCAM, FANCC, GREM1, HOXB13, KIT, MEN1, METM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PIK3CA, PDGFRA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RET, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, WT1.
This panel analyses variants in over 80 genes associated with hereditary forms of cancer, including: breast and gynaecological; gastrointestinal; endocrine; genitourinary; in the skin; in the nervous system; sarcoma; and haematological. It also includes the analysis of genes associated with less frequent forms of hereditary cancer, such as: Hereditary Melanoma; Cylindromatosis; Birt-Hogg-Dubé syndrome; Carney complex syndromes; Xeroderma Pigmentosum; Teratoid Rhabdoid tumor; hereditary leiomyomatosis and renal cell cancer syndrome; multiple osteochondromas; among others.
ACD, AIP, AKT1, ALK, APC, ASCL1, ATM, ATR, AXIN2, BAP1, BARD1, BDNF, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASP10, CASP9, CBL, CDC73, CDH1, CDH23, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CREBBP, CSF3R, CTC1, CTNNB1, CYLD, DDB2, DICER1, DIS3L2, DKC1, DNAJC21, DNMT3B, DOCK8, EDN3, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FH, FLCN, G6PC, GATA1, GATA2, GDNF, GLMN, GNAS, GPC3, GREM1, GTF2E2, HNF1A, HOXB13, HRAS, IPMK, JAG1, JAK2, KIF1B, KIT, KLLN, KRAS, LIG4, LZTR1, MAD2L2, MAGT1, MAP2K1, MAP2K2, MAP3K1, MAX, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11A, MSH2, MSH3, MSH6, MSR1, MTAP, MUTYH, NBN, NF1, NF2, NHP2, NME1, NOP10, NRAS, NSD1, NTHL1, NTRK1, PALB2, PARN, PDGFB, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PSMC3IP, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RAD54L, RAF1, RASA2, RASAL1, RB1, RECQL, RECQL4, RET, RHBDF2, RNASEL, RNF139, RRAS, RSPO1, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SDHB, SDHC, SEC23B, SERPINA1, SETBP1, SH2D1A, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SOS1, SPRTN, STAT3, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMC6, TMC8, TMEM127, TP53, TRIP13, TSC1, TSC2, UBE2T, VHL, WAS, WIPF1, WNT10A, WRAP53, WRN, WT1, XIAP, XPA, XPC, XRCC2, ZNF687.
This panel analyses variants in over 50 genes associated with a hereditary predisposition in infants for the development of solid, haematological, and nervous system malignant neoplasms.
ALK, APC, AXIN2, BAP1, BLM, BMPR1A, CDC73, CDKN1C, DICER1, DIS3L2, EPCAM, FH, GPC3, HRAS, MAX, MEN1, MLH1, MSH2, MSH6, NBN, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, RECQL4, RET, SDHB, SDHC, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, ATM, BLM, CEBPA, EPCAM, GATA2, HRAS, MLH1MSH2, MSH6, NBN, NF1, PMS2, RUNX1, TERCTERT, TP53, ALK, APC, DICER1, EPCAM, HRAS, MEN1, MLH1, MSH2, MSH6, NF1, NF2, SMARCB1, SUFU, TP53, TSC1, TSC2, VHL, MAX, RET, SDHB, TMEM127.