Familial adenomatous polyposis diagnostic study of choice: Difference between revisions
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== Overview == | == Overview == | ||
Familial adenomatous polyposis is | 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 | *Familial adenomatous polyposis is primarily diagnosed based on clinical presentation and [[family history]].<ref name="HalfBercovich2009">{{cite journal|last1=Half|first1=Elizabeth|last2=Bercovich|first2=Dani|last3=Rozen|first3=Paul|title=Familial adenomatous polyposis|journal=Orphanet Journal of Rare Diseases|volume=4|issue=1|year=2009|pages=22|issn=1750-1172|doi=10.1186/1750-1172-4-22}}</ref> | ||
*Familial adenomatous polyposis must be confirmed by a [[sigmoidoscopy]] or a full [[colonoscopy]] depending on the patient's age. | *Familial adenomatous polyposis must be confirmed by a [[sigmoidoscopy]] or a full [[colonoscopy]] depending on the patient's age. | ||
*[[Genetics|Genetic]] testing is used for [[Screening (medicine)|screening]] high risk individuals. | *[[Genetics|Genetic]] testing is used for [[Screening (medicine)|screening]] high risk individuals. | ||
*The most common [[Genetics|genetic]] testing is direct sequencing of the [[APC (gene)|''APC'' gene]]. However, sensitivity is 70%. | *The most common [[Genetics|genetic]] testing is direct sequencing of the [[APC (gene)|''APC'' gene]]. However, the sensitivity of this test is 70%. | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 22:58, 1 March 2018
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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.