Clinical diagnostic PMS2 testing in a single commercial laboratory: Challenges in grossdeletion/duplication analysis due to PMS2CL interference.
The majority of large rearrangements discovered during testing for PMS2 occur between exons 11-15 (68.36%).
With existing methodologies we were able to determine the location in most of these cases (80%). Additional methodologies are being explored to resolve the remaining cases.
This illustrates the need for comprehensive analysis of PMS2 including detailed assessment for large rearrangements within exons 11-15.
Authors: Selvi Palaniappan; Carin Espenschied; Jenna Guiltinan; Amal Yussuf; Chia-Ling Gau; Brian Shirts