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These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's phenotype is evaluated to identify myopathies requiring directed testing, including myotonic dystrophies, facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, mitochondrial myopathies, dystrophinopathies, and oculopharyngodistal myopathy. Initial investigation in the remaining patients is generally a comprehensive gene panel by next\u2010generation sequencing. Broad panels have a higher diagnostic yield and can be cost\u2010effective. Due to extensive phenotypic overlap and treatment implications, genes responsible for congenital myasthenic syndromes should be included when evaluating myopathy patients. For patients whose initial genetic testing is negative or inconclusive, phenotypic re\u2010evaluation is warranted, along with consideration of genes and variants not included initially, as well as their acquired mimickers.<\/jats:p>","DOI":"10.1002\/mus.27337","type":"journal-article","created":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T10:49:46Z","timestamp":1623840586000},"page":"255-269","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Guidelines for genetic testing of muscle and neuromuscular junction disorders"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5631-0559","authenticated-orcid":false,"given":"Stefan","family":"Nicolau","sequence":"first","affiliation":[{"name":"Department of Neurology, Mayo Clinic  Rochester Minnesota 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