Neuromuscular Disorders Panel

The Neuromuscular Disorders Panel analyzes genes that are associated with hereditary neuromuscular conditions, including but not limited to muscular dystrophies, inherited myopathies, mitochondrial disorders, congenital myasthenic syndromes, and rhabdomyolysis. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date in order to provide analysis for neuromuscular disorders. Given the clinical overlap of hereditary neuromuscular disorders, broad panel testing allows for an efficient evaluation of many potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated conditions, which are not included in the list of conditions tested. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. This assay does not currently test for facioscapulohumeral muscular dystrophy type 1 (FSHD1), oculopharyngeal muscular dystrophy (OPMD), or myotonic dystrophy types 1 and 2. Additional testing for these conditions should be considered, if not yet performed and clinically appropriate.