Neurology

Diagnostic Exome Sequencing In Adults With Neurological Disorders

•    DES is a valuable tool for diagnosing adults with neurological disorders, particularly patients with developmental delay/intellectual disability and complex phenotypes (neurodevelopmental disorders and multi-organ mixed phenotype).
•    The diagnostic yield for patients who had negative previous genetic testing was higher than patients who had no testing prior to DES.
•    While parental samples may be more difficult to obtain for adult patients, trio analysis with informative family samples were associated with higher diagnostic rates and helped to confirm de novo occurrence of a result in more than 1/3 of results
 

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