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Consider the net you cast: Multigene panel testing misses 15% of diagnostic results compared to exome sequencing

Date:
Thursday, Oct 5, 2023 12:30pm – 2:00pm
Conference:
CNS 2023
Authors:
Carrie Horton, Catherine Schultz, Dana Stolar, Meghan Towne, Melissa Holman

Presentation times:

Thursday October 5, 12:30pm-2:00pm AND 5:30pm-7:00pm

Take home points:

  1. We found 15% of ES patients would have had one or more P/LP missed by MGPT alone.
  2. Trios provide additional clarity for interpreting results and improve diagnostic yield while decreasing uncertain results.
Abstract Poster