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.

ApplicationUsed 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.