Session # P 203

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

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.

• Authors: Catherine Schultz; Dana Stolar; Melissa Holman; Carrie Horton; Meghan Towne
• Conference: CNS 2023
• Date: Thursday, Oct 05, 2023 12:30pm - 2:00pm