Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystrophinopathies. Therefore, these European best practice guidelines for genetic testing in dystrophinopathies have been produced to update previous guidelines published in 2010.These guidelines summarise current recommended technologies and methodologies for analysis of the DMD gene, including testing for deletions and duplications of one or more exons, small variant detection and RNA analysis. Genetic testing strategies for diagnosis, carrier testing and prenatal diagnosis (including non-invasive prenatal diagnosis) are then outlined. Guidelines for sequence variant annotation and interpretation are provided, followed by recommendations for reporting results of all categories of testing. Finally, atypical findings (such as non-contiguous deletions and dual DMD variants), implications for personalised medicine and clinical trials and incidental findings (identification of DMD gene variants in patients where a clinical diagnosis of dystrophinopathy has not been considered or suspected) are discussed.

中文翻译：

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EMQN 抗肌萎缩蛋白病基因检测最佳实践指南。

由于 DMD 基因变异，肌营养不良症是 X 连锁疾病，包括 Duchenne 肌营养不良症和 Becker 肌营养不良症。近年来，新基因技术的应用和新的个性化药物的可用性影响了抗肌萎缩蛋白病的诊断基因检测。因此，制定了这些欧洲肌营养不良症基因检测最佳实践指南，以更新 2010 年发布的先前指南。这些指南总结了当前推荐的 DMD 基因分析技术和方法，包括检测一个或多个外显子的缺失和重复，小变异检测和RNA分析。然后概述了用于诊断、携带者检测和产前诊断（包括无创产前诊断）的基因检测策略。提供了序列变异注释和解释指南，然后是报告所有类别测试结果的建议。最后，讨论了非典型发现（例如非连续缺失和双重 DMD 变异）、对个性化医学和临床试验的影响以及偶然发现（在未考虑或怀疑临床诊断为肌营养不良蛋白病的患者中鉴定 DMD 基因变异） .