Utility of Targeted RNA Analysis in Neurogenetic Disorders

Clinical genetic testing is a powerful diagnostic tool for neurologic disorders. However, its clinical utility is diminished by the large number of variants of unknown significance (VUS) detected in patients. While in silico predictive tools have improved, accurate classification of potentially spliceogenic variants still requires a demonstrated splicing impact. One major challenge for RNA studies for neurogenetic conditions is the access to disease-relevant tissues for analysis. In this study, we sought to determine how RNA studies of whole-blood RNA can effectively reclassify variants in genes associated with neurologic disorders.