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Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

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

Author information

1
Aix Marseille Univ, Inserm, MMG, Marseille Medical Genetics - Translational Neuromyology, Marseille, France. martin.krahn@univ-amu.fr.
2
APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France. martin.krahn@univ-amu.fr.
3
Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, Strasbourg, France.
4
Aix Marseille Univ, Inserm, MMG, Marseille Medical Genetics - Translational Neuromyology, Marseille, France.
5
APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
6
CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France.
7
Université Montpellier, Laboratoire de Génétique de maladies rares, Montpellier, France.
8
HCL, Centre de Biologie et Pathologie Est, UM Pathologies Endocriniennes, Rénales, Musculaires et Mucoviscidose, Bron, France.
9
APHP, Laboratoire de génétique et biologie moléculaires, HUPC Cochin, Paris, France.
10
APHP, Département de Génétique, Hôpital Bichat Claude Bernard, Paris, France.
11
Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est - CHU de Lyon, Lyon, France.
12
APHM, Hôpital Timone, Centre de référence des maladies neuromusculaires et de la SLA, Marseille, France.
13
APHP, Hôpital Marin, Centre de compétence neuromusculaire Hendaye, Hendaye, France.
14
Inserm UMR-1169, Université Paris Sud, Paris, France.
15
Centre Hospitalier Régional Universitaire de Grenoble, Hôpital Michallon, Biochimie Génétique et Moléculaire, Grenoble, France.
16
Univ Grenoble Alpes, Grenoble Institut des Neurosciences, GIN, Grenoble, France.
17
Inserm U1216, Grenoble, France.
18
APHP, Laboratoire de Génétique moléculaire, GH Antoine Béclère, Clamart, France.
19
APHP, Centre de génétique moléculaire et chromosomique, Hôpital Pitié-Salpêtrière, Paris, France.

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".

PMID:
30552423
PMCID:
PMC6460575
[Available on 2020-03-01]
DOI:
10.1038/s41431-018-0305-1
[Indexed for MEDLINE]

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