Use

The MLH1 Hypermethylation Analysis, Blood test is used as an adjunct to positive hypermethylation in tumors to distinguish between somatic and germline hypermethylation. It is also used in cases where colon or endometrial tumors demonstrate microsatellite instability-H (MSI-H) and loss of MLH1 protein expression, especially when germline testing is negative. This supports the diagnosis of Lynch syndrome, an autosomal dominant hereditary cancer syndrome associated with germline variants in mismatch repair (MMR) genes and increased risks for colorectal and endometrial cancers.