Session # P545

A plot twist: When RNA evidence challenges our expectations of DNA results

Paired DNA and RNA testing (DGT-RGT) improves accuracy of DNA results by detecting spliceogenic variants that reside outside of standard next generation sequence (NGS) capture and by providing a functional line of evidence in variant classification. An additional benefit of DGT-RGT is the identification of variants that cause unanticipated or unconventional splicing events. Here we present a variant-level case series highlighting unexpected RNA findings identified at one clinical diagnostic laboratory through DGT-RGT.

  • Authors: Colin Young, PhD; Carrie Horton, MS-CGC; Heather Zimmermann, PhD; Jessica Grzybowski, MS, CGC; Rachid Karam, MD, PhD
  • Conference: ACMG 2023
  • Date: Thursday, Mar 16, 2023 10:30am - 12:00pm

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