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Repeat expansion disorders are genetic diseases that are caused by expansions in DNA repeats and that affect about 1 in 3000 individuals. Genetic testing is difficult and often locus specific. Many patients go undiagnosed genetically and have atypical clinical presentations without a positive family history. Whole genome sequencing is frequently used in rare genetic disorders. In this study, this procedure was used in the diagnosis of patients with neurological repeat expansion disorders.
Samples were obtained from the National Health Services (NHS) in England from patients suspected of having repeat expansion neurological disorders. Previously obtained PCR test results were used as a reference standard. Accuracy of whole genome sequencing t…