Exome & General Genetics

Session # 168

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

 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

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