Guidelines for DMD Genetic testing

Best practice meeting on Duchenne /Becker muscular dystrophies was held in Naarden, the Netherlands on November 14-16, 2008. The meeting was held under the auspices of Eurogentest, TREAT-NMD, EMQN, and was organized by ENMC. It convened 30 scientists and clinicians from 21 countries from Europe, the USA, India, and Australia. In view of recent developments in both molecular testing techniques and therapeutical approaches, the aim of the meeting was to update the guidelines for molecular testing of dystrophinopathies, which dated back to the 1990´s. The presentations included updates on current approaches to testing, novel technologies, and a review on the current concepts for clinical trials, many of which rely on mutation specific approaches. In parallel to this, TREAT-NMD has launched an initiative to set up patient registries in all countries to improve trial readiness. These activities call for a harmonisation of  diagnostic testing procedures, result interpretation, and reporting formats. During the discussions the content of the guideline updates was agreed, which includes the basic characteristics of the gene, the approaches to diagnose affected patients, to carrier detection, and prenatal diagnosis. It also includes recommendations for result interpretations, mutation nomenclature, and report writing.

Stephen Abbs, Thomas Sejersen, Clemens Müller-Reible