Predisposition to Cancer
Product NameApplicationRegion
ME024-9p21 Tumours, Cutaneous melanoma 9p21, CDKN2A, CDKNA2B
P002-BRCA1CE Hereditary breast cancer (BRCA1) BRCA1 17q21.31
P003-MLH1/MSH2CE Lynch Syndrome MLH1 3p22.2, MSH2 2p21
P008-PMS2 Lynch Syndrome PMS2 7p22
P016-VHLCE Von Hippel-Lindau Syndrome VHL, 3p25
P017-MEN1 Multiple endocrine neoplasia MEN1 11q13
P041-ATM-1CE Ataxia-Telangiectasia (AT) ATM 11q23
P042-ATM-2CE Ataxia-Telangiectasia (AT) ATM 11q23
P043-APC Hereditary Polyposis Colon Cancer APC, 5q21-q22
P044-NF2 Neurofibromatosis type 2 (NF2) NF2 22q12
P045-BRCA2/CHEK2CE Breast cancer, hereditary BRCA2, CHEK2
P046-TSC2 Tuberous Sclerosis TSC2 16p13.3
P047-RB1 Retinoblastoma (RB) RB1 13q14
P056-TP53 Li-Fraumeni syndrome (LFS) and tumour analysis TP53 17p13.1
P057-FANCD2-PALB2 Fanconi anemia (FA) FANCD2. 3p25.3, PALB2 16p12
P067-PTCH1 Gorlin syndrome PTCH1 9q22.3
P072-MSH6 Lynch Syndrome MSH6
P077-BRCA2 Breast cancer, hereditary BRCA2
P081-NF1 mix 1 Neurofibromatosis NF1 17q11.2
P082-NF1 mix 2 Neurofibromatosis NF1 17q11.2
P083-CDH1 Hereditary diffuse gastric cancer CDH1 at 16q22.1
P087-BRCA1 Breast cancer, hereditary BRCA1
P090-BRCA2CE Breast cancer, hereditary BRCA2 13q13.1
P101-STK11CEimproved Peutz-Jeghers syndrome (PJS) STK11 19p13.3
P118-WT1 Wilms tumours, WAGR, Denys-Drash, Frasier syndrome. WT1 11p13
P122-NF1-area Neurofibromatosis NF1 17q11.2
P124-TSC1 Tuberous Sclerosis TSC1 9q34
P158-JPS Juvenile polyposis syndrome (JPS) BMPR1A 10q22, SMAD4 18q21, PTEN 10q23
P190-CHEK2 Breast cancer susceptibility CHEK2 22q12, ATM , PTEN, TP53
P215-EXT Multiple Osteochondromas EXT1 8q24, EXT2 11p11
P225-PTEN Cowden syndrome and tumour analysis PTEN 10q23
P226-SDH Paragangliomas (PGL) SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3
P239-BRCA1 region Breast cancer BRCA1 region
P240-BRIP1/CHEK1 Hereditary predisposition to Cancer BRIP1 17q22, CHEK1 11q22
P244-AIP-MEN1-CDKN1B Multiple endocrine neoplasia (MEN) AIP 11q13, MEN1 11q13, CDKN1B 12p13
P248-MLH1-MSH2 Confirmation Lynch Syndrome MLH1 3p21.3, MSH2 2p21
P258-SMARCB1 Rhabdoid tumors SMARCB1 22q11.2
P260-PALB2-RAD50-RAD51C-RAD51D Fanconi Anemia 5q31, 16p12, 17q12, 17q22
P308-MET Papillary renal carcinoma, various cancers MET 7q31, PTEN 10q23.31, LRRK2 12q12
P337-TSC2 Tuberous sclerosis TSC2 gene, 16p13.3
P378-MUTYH Colon cancer, stomach cancer (hereditary) 1p34 and 15q13
P417-BAP1 Melanocytic tumours, mesothelioma BAP1, 3p21.1
P419-CDKN2A/2B-CDK4 Familial melanoma CDKN2A, CDKN2B, CDK4, MITF E318K
P429-SDHA-MAX Paraganglioma and pheochromocytoma 5p15.3 and 14q23.3
P437-Familial MDS-AMLimproved Familial MDS-AML RUNX1, CEBPA, GATA2, TERT, TERC
P455-LZTR1 Schwannomatosis 22q11.21
P466-CDC73 HPT jaw tumour syndrome, famial hyperparathyroidism, parathyroid carcinoma CDC73
P472-SUFU Familial Medulloblastoma and Meningioma 10q24.32
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