Best practice guidelines for molecular testing published in Neuromuscular Disorders

Best practice guidelines for molecular testing published in Neuromuscular Disorders
  • Contacts
  • Thomas Sejersen
    Thomas Sejersen
    Thomas Sejersen holds positions as Professor in Neuropediatrics at the Department of Women's and Children's...
  • Clemens Müller-Reible
    Clemens Müller-Reible
    Clemens Müller-Reible is Professor of Human Genetics at the University of Wuerzburg. He trained as a...

In view of recent developments in both molecular testing techniques and therapeutic approaches for DMD, the need to update the guidelines for molecular testing of dystrophinopathies, which dated back to the 1990s, was identified. To this end, a best practice meeting on Duchenne /Becker muscular dystrophies was held in Naarden, the Netherlands on November 14-16, 2008. The meeting report has recently been published in Neuromuscular Disorders and is available to download free of charge.

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. 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.

During the discussions the content of the guidelines 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.

To download the article from Neuromuscular disorders please use the link below.

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller CR.

Neuromuscul Disord. 2010 Jun;20(6):422-7

12 Apr 2017