Familial polyposis coli test

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.