A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Martin Krahn 1, 2 Valérie Biancalana 3 Mathieu Cerino 1 Aurélien Perrin 4, 5 Laurence Michel-Calemard 6 Juliette Nectoux 7 France Leturcq 7 Céline Bouchet-Séraphin Cécile Acquaviva-Bourdain 8 Emmanuelle Campana-Salort 9, 1, 10 Annamaria Molon Jon Andoni Urtizberea 11 Frédérique Audic 12, 1 Brigitte Chabrol 12, 1 Jean Pouget 1, 13, 10 Roseline Froissart 14 Judith Melki 15 John Rendu 16 François Petit Corinne Metay 17 Nathalie Séta 18 Damien Sternberg 19 Julien Faure 20 Mireille Cossée 4, 5
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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Martin Krahn, Valérie Biancalana, Mathieu Cerino, Aurélien Perrin, Laurence Michel-Calemard, et al.. A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing. European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩. ⟨hal-02434896⟩



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