Session # Presentation# N1.003 Session N1

Multi-Gene Panels vs. Diagnostic Exome Sequencing: A Comparison of Genetic Testing Options for Neurodevelopmental Disorders

• Evaluated the diagnostic yield of multi-gene panels (MGP) and diagnostic exome sequencing (DES) for neurodevelopmental disorders (NDD), allow providers to select the best test strategy for their patients.
• 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.

• Speakers: Jing Wang
• Conference: AAN ( American Academy of Neurology)
• Date: Sunday, Apr 22, 2018 4:50pm - 5:05pm