What genetic tests are recommended for confirming a diagnosis of muscular dystrophy in suspected cases?

For confirming a diagnosis of muscular dystrophy in suspected cases, molecular genetic testing is the primary method (Zhang et al., 2019). Specifically, next-generation sequencing (NGS) is a recommended strategy for the diagnosis of dystrophinopathies (Zhang et al., 2019). For facioscapulohumeral muscular dystrophy (FSHD), updated best practice guidelines outline the genetic diagnostic approaches (Giardina et al., 2024). Accurate genetic diagnosis is fundamental, as it underpins the development of genetic-based treatment strategies for various muscular dystrophies (Findlay and Weihl, 2022). The provided UK guidelines do not contain specific recommendations for genetic tests to confirm muscular dystrophy diagnoses ¹,²,³,⁴,⁵,⁶.