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

Krahn M1,2, Biancalana V3, Cerino M4,5, Perrin A6,7, Michel-Calemard L8, Nectoux J9, Leturcq F9, Bouchet-Séraphin C10, Acquaviva-Bourdain C11, Campana-Salort E4,12, Molon A12, Urtizberea JA13, Audic F4,12, Chabrol B12, Pouget J4,12, Froissart R11, Melki J14, Rendu J15,16,17, Petit F18, Métay C19, Seta N10, Sternberg D19, Fauré J15,16,17, Cossée M6,7.

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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".