Product Name

Application

Region

ME024-9p21

Tumours, Cutaneous melanoma

9p21, CDKN2A, CDKNA2B

P002-BRCA1 CE

Hereditary breast cancer (BRCA1)

BRCA1 17q21.31

P003-MLH1/MSH2 CE

Lynch Syndrome

MLH1 3p22.2, MSH2 2p21

P008-PMS2

Lynch Syndrome

PMS2 7p22

P016-VHL CE

Von Hippel-Lindau Syndrome

VHL, 3p25

P017-MEN1

Multiple endocrine neoplasia

MEN1 11q13

P041-ATM-1 CE

Ataxia-Telangiectasia (AT)

ATM 11q23

P042-ATM-2 CE

Ataxia-Telangiectasia (AT)

ATM 11q23

P043-APC

Hereditary Polyposis Colon Cancer

APC, 5q21-q22

P044-NF2

Neurofibromatosis type 2 (NF2)

NF2 22q12

P045-BRCA2/CHEK2 CE

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-BRCA2 CE

Breast cancer, hereditary

BRCA2 13q13.1

P101-STK11

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-AML

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