Familial polyposis coli test
| Specimen: |
10-20 mL blood in EDTA tube.
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| Method: |
PCR-based analysis to detect the presence of common mutations within the APC (adenomatous polyposis coli) gene.
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| Application: |
Used in conjunction with colonoscopy to diagnose familial polyposis coli. Used to identify asymptomatic carriers.
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| 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.
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| Reference: |
Walpole IR et al. Med J Aust 1995; 162: 464-467.
Gardner M and St John J. Med J Aust 1995; 162: 457.
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