Session # 13, Abstract Program #52

Coverage matters: High rate of promoter 1B deletions in a large APC testing cohort

•In a 5 year dataset of >65,000 tests, promoter 1B deletions accounted for nearly 5% of APC mutation-positive cases (4.6%, 33/716) and represented the most common APC deletion (37.5%, 33/88).
•Multiple APC promoter 1B deletion-positive cases had received previous negative APC testing through another laboratory.
•For patients suspected of having an APC-associated polyposis condition, deletion coverage of APC promoter 1B is critical and our data supports re-testing for promoter 1B deletions if not included in previous negative APC analysis.

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