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: ACMG 2018
• Date: Friday, Apr 13, 2018 10:30am - 12:00pm