Familial Adenomatous Polyposis
Supplemental Studies
Immunohistology
- No practical applications
Genetic testing
- Principal test is in vitro protein synthesis
- Detects truncated form of APC protein
- Abnormal in 80% of FAP cases
- Negative cases may represent mutations affecting function but not length of the protein
- If index case is found to be abnormal, this test is virtually 100% sensitive for detecting carriers of the mutation within the same kindred
- Detects truncated form of APC protein
