Abstract
Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200 implicated genes to date. Nonetheless, important inter-laboratory diversity of gene panels exists at national and international levels, complicating the exchange of data and the visibility of the diagnostic offers available for referring neurologists. To address this issue, we here describe the initiative of the genetic diagnosis section of the French National Network for Rare Neuromuscular Diseases (Filière Nationale des Maladies Rares Neuromusculaires, FILNEMUS), which led to set up a consensual nationwide diagnostic strategy among the nine French genetic diagnosis laboratories using NGS for myopathies. The strategy is based on the determination of 13 clinical and/or histological entry-diagnosis groups, and consists for each group either in a successive NGS analysis of a “core gene list” followed in case of a negative result by the analysis of an “exhaustive gene list”, or in the NGS analysis of a “unique exhaustive gene list”.
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References
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Acknowledgements
We sincerely thank Shahram Attarian, Christine Barnerias, Marc Bartoli, Anthony Behin, Claude Cances, Jean-Marie Cuisset, Andoni Echaniz-Laguna, Bruno Eymard, Svetlana Gorokhova-Devred, Pascal Laforet, Nicolas Levy, Armelle Magot, Philippe Petiot, Susana Quijano Roy, François Rivier, Sabrina Sacconi, Tanya Stojkovic, and Guilhem Sole for their contribution in reviewing the definite gene list documents. We sincerely thank Anne Barlier, Gisèle Bonne, Claude Jardel, Delphine Lacourt, Philippe Latour, Vincent Procaccio, Pascale Richard, and Pascale Saugier-Veber for organizational discussions.
This study was supported by the Filière Nationale des Maladies Rares Neuromusculaires FILNEMUS, AFM-TELETHON, and by a Grant FP7/2007-2013 from the European Community Seventh Framework Program (Grant Agreement No. 2012-305121) “Integrated European omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases” (NEUROMICS).
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Krahn, M., Biancalana, V., Cerino, M. et al. A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing. Eur J Hum Genet 27, 349–352 (2019). https://doi.org/10.1038/s41431-018-0305-1
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DOI: https://doi.org/10.1038/s41431-018-0305-1
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