year: 2011

authors: Fiona Macdonald, Stewart J. Payne

Background:. UK Clinical Molecular Genetics Society (CMGS) consensus best practice guidelines for molecular analysis of familial adenomatous polyposis coli (FAP) were published in 2000. Technological developments in molecular testing for FAP together with the clinical and molecular characterisation of MUTYH-associated polyposis (MAP) led to the need to update the original FAP guidelines which were “retired” in December 2007. This update presents consensus best practice in the molecular analysis of clinically related colorectal polyposis syndromes of FAP and MAP. Methods: Testing and reporting guidelines have been drawn up and agreed in accordance with the procedures of the UK Clinical Molecular Genetics Society.

Results: A practical set of molecular genetic testing and reporting guidelines has been developed for both familial adenomatous polyposis coli and MUTYH-associated polyposis. In addition, advice is given on appropriate reporting policies, including advice on test sensitivity and recurrence risks. Conclusion: An agreed set of practice guidelines has been developed for the diagnostic molecular genetic testing of colorectal polyposis.