Why the study?
New genetic technologies and personalised drugs have influenced diagnostic testing, necessitating an update to the 2010 European best practice guidelines for genetic testing in dystrophinopathies.
Design
Best practice guidelines
Authors
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Standardizes genetic testing for dystrophinopathies to enable genotype-based therapies; extends prior guidelines with current technologies.
These updated guidelines provide a standardized, evidence-based diagnostic algorithm for dystrophinopathies to improve diagnostic accuracy, facilitate carrier testing, and enable access to personalized genotype-based therapies.
Fratter et al. (2020) conducted a review in Dystrophinopathies (Duchenne and Becker muscular dystrophy). Genetic testing guidelines was evaluated. These updated European best practice guidelines summarize current recommended technologies and methodologies for the genetic diagnosis, carrier testing, and prenatal diagnosis of dystrophinopathies.
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