Colorectal polyposis due to non-adenomatous polyps (e.g. serrated, hamartomatous, juvenile etc).
Colorectal polyposis due to polyps of mixed histology where the non-adenomatous polyps predominate (e.g. significant numbers of both serrated and adenomatous polyps).
Person with solitary classical CHRPE or with congenital grouped pigmentation of the retina (“bear tracks”).rr
A variant-specific test (rather than sequencing a single gene or gene panel) may be more cost effective and appropriate where:
- a known pathogenic variant has been identified in a relative
- a specific pathogenic variant has been identified on somatic tumour testing.
Predictive testing should never be ordered when only a variant of uncertain significance or a benign/likely benign variant has been identified in a family.