Session # 620

What you can get and what would be missed: a side by side comparison of panels vs exome testing for Neurodevelopmental disorders

  • While MGP provides low cost, targeting to high yield genes, DES has a unique advantage of analyzing a much broader gene list.
  • DES achieved molecular diagnosis in additional 9 (8%) of patients who first underwent MGP testing.
  • Higher NGS coverage in MGP allows for the detection of gross deletions and duplications, and some complex rearrangements.

  • Authors: Jing Wang; Kirsten Blanco; Heather Newman; Zöe Powis; Sha Tang; Elaine C. Weltmer
  • Conference: American College of Medical Genetics and Genomics (ACMG)
  • Date: Friday, Apr 13, 2018 10:30am - 12:00pm

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