Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Abbs, S.; Tuffery-Giraud, S.; Bakker, E.; Ferlini, A.; Sejersen, T.; Mueller, C.R.

http://hdl.handle.net/10400.18/4018

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Introduction: A meeting of 29 senior scientists from Europe, the USA, India and Australia, was held in Naarden, The Netherlands on November 14–16, 2008, to establish consensus Best Practice Guidelines for molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD/BMD). New therapeutic trials for DMD demand accurate diagnosis of the disorder, especially where the therapy is targeted towards specific mutations. These guidelines aim to help diagnostic laboratories attain that accuracy by describing the minimum standards for acceptable molecular diagnostic testing of DMD. For the different types of clinical referral received by a molecular diagnostic laboratory, the guidelines recommend the appropriate tests to be carried out, interpretation of the results and how those results should be reported.