Familial polyposis coli testing
Last updated: Wednesday, 11, March, 2009
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| Item | Process |
|---|---|
| Specimen | 10-20 mL blood in EDTA tube. |
| Method | PCR-based analysis to detect the presence of common mutations within the APC (adenomatous polyposis coli) gene. |
| Application | Used in conjunction with colonoscopy to diagnose familial polyposis coli. Used to identify asymptomatic carriers. |
| Interpretation | Current laboratory methods detect 70-80% of the mutations in the APC gene. The identification of a mutation within the APC gene is diagnostic for familial polyposis coli. The identification of a mutation does not predict the likely age of onset of colon cancer or the possibility of significant extra-colonic complications. Molecular genetic studies are indicated in other family members. The absence of a mutation does not exclude the diagnosis and family studies may clarify a person’s carrier status. |
| Reference | Walpole IR et al. Med J Aust 1995; 162: 464-467. Gardner M and St John J. Med J Aust 1995; 162: 457. |