Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Familial adenomatous polyposis diagnostic study of choice
Introduction
Overview
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
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2]