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Clinical diagnostic PMS2 testing in a single commercial laboratory: Challenges in grossdeletion/duplication analysis due to PMS2CL interference.

Date:
Wednesday, Jul 5, 2017 12:00pm – 12:00pm
Conference:
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Authors:
Amal Yussuf, Brian Shirts, Carin Espenschied, Chia-Ling Gau, PhD, DABMG, Jenna Guiltinan,, Selvi Palaniappan
  • 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.
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