Medical Q&As

FAP - genetic testing?

My ex-husband has FAP (familial adenomatous polyposis), which was diagnosed in July 2001 and he had an ileostomy performed in October 2001. He has contacted me recently to say there is a 50% chance our daughters could inherit this and they need to undergo genetic testing. Where do I take them?

Familial adenomatous polyposis means that multiple polyps are present in the colon and rectum, which have the potential of becoming malignant. Usually there are so many of these polyps present that it is not possible to remove them individually and the more radical procedure of removing the colon or a portion of the colon is adopted. Presumably that is the reason why your former husband now has an ileostomy. The gene mutation responsible for this condition has recently been identified on chromosome 5 and is known as the APC (adenomatous polypi coli) gene. It is possible to detect the presence of this gene with a blood test so the next step that you should take is to consult with your GP and make the arrangements for the test to be performed on your daughters. Your GP may be able to take the sample for you or alternatively he or she might refer your daughters to a gastroenterologist for further testing.