MLH1 PROMOTER HYPERMETHYLATION
MLH1 loss determined by IHC is observed in dMMR tumours from both Lynch syndrome patients but also a significant minority of sporadic tumours. MLH1 promoter hypermethylation is a common somatic epimutation in sporadic tumours yet is rare in Lynch syndrome tumours where the ‘first hit’ is inherited. MLH1 promoter hypermethylation can be used to stratify Lynch syndrome risks in patients, particularly those which meet revised Bethesda criteria.
Please refer to the National Genomic Test Directory for Cancer here.
MLH1 Hypermethylation 21 calendar days
- Lymphocyte samples are accepted in order to test for rare cases of Lynch syndrome due to constitutional MLH1 promoter hypermethylation.
Please refer to our Sample Requirements section before sending any samples to us for testing.