Familial Adenomatous Polyposis and MUTYH-Associated Polyposis

Introduction

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.

Referral information

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.

Sample requirements

4ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 175100, 608456

Gene(s) - APC, MUTYH

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