Diagnostic Exome Sequencing in Adolescents with Neurological and Neurodevelopmental Disorders
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
Authors: Kirsten Blanco; Zöe Powis; Kelly Farwell Hagman; Elaine C. Weltmer; Sha Tang