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Diagnostic Exome Sequencing in Adolescents with Neurological and Neurodevelopmental Disorders

Session:
#308
Date:
Sunday, Apr 22, 2018 11:30am – 5:30pm
Conference:
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Authors:
Elaine C. Weltmer, Kelly Farwell Hagman, Kirsten Blanco, Sha Tang, Zöe Powis
  • Adolescent patients provide a unique opportunity within the pediatric population to evaluate the clinical utility of diagnostic exome sequencing (DES) in undiagnosed individuals with neurodevelopmental disorders (NDD)
  • We report the detection rates and findings of 568 adolescents with NDD undergoing DES
  • Positive or likely positive findings were identified in 106 individuals (19%) in 106 characterized genes; 66% (70/106) of these genes are not included in a large routine neurodevelopmental MGPT
  • Identification of a genetic etiology has important treatment, management, and reproductive implications as these patients transition into adulthood
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