Genetic testing for inherited colorectal cancer (polyposis) (R211)

Testing strategy

Clinically affected probands:

R211.1 - analysis for small variants in the gene panel indicated below

R211.2 - dosage analysis for copy number variants in the gene panel below (NHSE test indication requires analysis only of APC, but methodology used assesses dosage of all genes included in the panel)

NHSE funded test referrals should meet the relevant NHSE eligibility criteria (pdf).

Genes tested:

Genes analysed are in accordance with the 'green' high evidence of clinical association gene list in panel app.

Targeted analysis for known / previously reported familial variants:

Presymptomatic testing in clinically unaffected family members at risk of inheriting a previously reported familial pathogenic variant (R242)
Diagnostic confirmation in individuals at risk of inheriting a previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
Segregation studies in affected family members to aid variant interpretation (R375)
Prenatal diagnosis is not typically requested