A high-coverage sequencing panel is a useful and efficient means to identify genes associated with movement disorders, according to a study published online June 18 in JAMA Neurology. The authors say the panel was a cost-effective diagnostic alternative to whole-exome and whole-genome sequencing (WES and WGS). Movement disorders, including Parkinson’s disease, are known for their marked heterogeneity in genotype and phenotype, which complicate diagnosis. The authors say that molecular diagnosis by standard Sanger sequencing is “tedious, time consuming, and inefficient,” plus analyses of the known implicated genes are not yet always routinely available. Further, they say that that variants of unknown significance (VUS) uncovered using WES and WGS can complicate return of results. So, the French researchers developed a targeted sequencing approach using a panel of 127 genes involved in movement disorders and evaluated its performance in a cohort of 378 patients seen at tertiary movement disorder clinics (September 2014 to July 2016). Patients had at least one chronic movement disorder and had an age at onset younger than 40 years and/or a family history of movement disorders (37 percent). Patients were classified as parkinsonism, dystonia, chorea, paroxysmal movement disorder, and myoclonus. Twenty-three patients suspected of having inherited cerebellar ataxia […]