Heterozygous mutations in APC cause familial adenomatous polyposis (FAP). Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. MUTYH-associated polyposis (MAP) is an autosomal recessive disorder caused by bi-allelic pathogenic mutations in MUTYH. Typically associated with tens to a few hundred colonic adenomatous polyps, MAP also greatly increases lifetime risk of colorectal cancer.
We accept referrals for mutation scanning in APC and MUTYH 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 FAP or MAP assessed. 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|
|APC, MUTYH||POA||POA||56 calendar days|
|Single mutation test||POA||POA||14 calendar days|
Test validation & quality assurance - information for users
100% of the coding sequence in APC and MUTYH is covered.
4ml EDTA blood sample
Please see our referral guidelines for more information.
Gene(s) - APC, MUTYH