Familial adenomatous polyposis diagnostic study of choice

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.

[HalfBercovich2009-1] 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.

[1]