Lynch syndrome 4 gene panel
Hereditary nonpolyposis colon carcinoma (HNPCC) or Lynch syndrome is formally defined molecularly as germline mutations usually identified in any of the four MMR genes: MLH1, MSH2, MSH6 and PMS2; with 90% of the mutations involved in MLH1 (50%) or MSH2 (40%). An accurate molecular diagnosis can help determine if a patient and his family are at increased risk of developing colorectal cancer, helping to establish and evaluate cancer prevention measures and surgical options. This type of testing is recommended in many “guidelines”.
This panel simultaneously analyzes MLH1, MSH2, MSH6, PMS2 genes by NGS technology, sequencing their coding regions to detect mutations.
