What a test can show
Sequencing plus deletion/duplication analysis; mosaicism may require a tailored strategy.
Monogenic conditions
Pathogenic variants can cause familial adenomatous polyposis and related phenotypes.
Sequencing plus deletion/duplication analysis; mosaicism may require a tailored strategy.
Confirmation may change surveillance and family testing.
A normal consumer SNP test does not rule out the syndrome.
SOURCES AND VERSION
Updated: 14 August 2026. Any clinical interpretation requires the exact variant, testing method, family information and medical context.