Familial adenomatous polyposis diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2]
Overview
Familial adenomatous polyposis is primarily diagnosed based on the clinical presentation and family history. Familial adenomatous polyposis must be confirmed by a sigmoidoscopy or a full colonoscopy depending on the age of the patient.
Diagnostic Study of Choice
- Familial adenomatous polyposis is primarily diagnosed based on clinical presentation and family history.[1]
- Familial adenomatous polyposis must be confirmed by a sigmoidoscopy or a full colonoscopy depending on the patient's age.
- Genetic testing is used for screening high risk individuals.
- The most common genetic testing is direct sequencing of the APC gene. However, the sensitivity of this test is 70%.
References
- ↑ Half, Elizabeth; Bercovich, Dani; Rozen, Paul (2009). "Familial adenomatous polyposis". Orphanet Journal of Rare Diseases. 4 (1): 22. doi:10.1186/1750-1172-4-22. ISSN 1750-1172.