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7388725 
Journal Article 
EMQN best practice guidelines for genetic testing in dystrophinopathies 
Fratter, C; Dalgleish, R; Allen, SK; Santos, R; Abbs, S; Tuffery-Giraud, S; Ferlini, A 
2020 
Yes 
European Journal of Human Genetics
ISSN: 1018-4813
EISSN: 1476-5438 
28 
9 
1141-1159 
English 
32424326 
WOS:000533845300004 
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.