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Clinical Diagnostic Exome Sequencing in Dystonia: the Challenges of Genetic Testing for Complex Conditions

Session:
#168
Date:
Friday, Apr 13, 2018 10:30am – 12:00pm
Conference:
ACMG 2018
Authors:
Amanda Bergner, Elaine C. Weltmer, Jing Wang, Kelly Farwell Hagman, Kirsten Blanco, Sha Tang, Zöe Powis

 High Ranking

  • Dystonia is a group of clinically and genetically heterogeneous disorders in which knowledge of genes associated with the conditions is rapidly changing
  • If a genetic etiology for dystonia can be determined, targeted therapies can be initiated and symptoms may be reduced
  • We report the detection rates and findings in 189 probands with dystonia undergoing exome
  • Detection rates of individuals that present with dystonia or potential dystonia are similar to individuals with other genetic conditions undergoing DES
Abstract Poster