Lynch syndrome is an autosomal dominant disorder with a high penetrance rate and accounts for 3%-4% of all colorectal cancer cases. Allelic heterogeneity and phenocopies occur. At least six mismatch repair genes may be involved in Lynch syndrome pathology. Germ line mutations in the MLH1 and MSH2 genes have been estimated to be responsible for approximately 60-70% of HNPCC cases.
We accept referrals for mutation scanning in MLH1, MSH2 and MSH6 from patients affected by and with a family history of bowel cancer. Patients must have been seen by a Clinical Geneticist and their risk of Lynch syndrome assessed against the Amsterdam criteria. If a pathogenic mutation is found we can offer follow-up testing to at-risk family members.
Price & reporting times
NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. In other cases please contact the lab for prices.
|Test||Price (NHS)||Price (non-NHS)||TRT|
|MLH1, MSH2, MSH6||POA||POA||56 calendar days|
|Single mutation test||POA||POA||14 calendar days|
Test validation & quality assurance - information for users
In affected individuals from families satisfying the Amsterdam criteria the pathological mutation detection rate is >50%.
4ml EDTA blood sample
Please see our referral guidelines for more information.
OMIM Number(s) - 120435
Gene(s) - MLH1, MSH2, MSH6