Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium
More than two-thirds of patients received a definitive diagnosis without the use of next-generation sequencing. Although innovative technologies such as whole genome sequencing and long-read sequencing are expected to eventually replace NGS panels and traditional methods (e.g., MLPA, PCR, aCGH), their current cost and the complexity of variant interpretation limit their widespread use in routine clinical practice. As a result, these older techniques remain relevant and valuable in current diagnostic workflow.
Authors
- Charlotte Mouraux (ORCID: https://orcid.org/0000-0001-9569-9229)
- Stéphanie Delstanche (ORCID: https://orcid.org/0000-0003-4481-579X)
- Laura Vanden Brande
- Tamara Dangouloff (ORCID: https://orcid.org/0000-0002-5435-4774)
- Laurent Servais (ORCID: https://orcid.org/0000-0001-9270-4061)
- Alain Maertens de Noordhout (ORCID: https://orcid.org/0000-0002-0386-7115)
- Aurore Daron
- Margaux Poleur (ORCID: https://orcid.org/0009-0007-8113-4092)
- Laurane Mackels (ORCID: https://orcid.org/0000-0002-2132-3736)
Institutions
- University of Liège (BE)
- University of Oxford (GB)
- Centre Hospitalier Universitaire de Liège (BE)
- Oxford BioMedica (United Kingdom) (GB)
- Centre hospitalier régional de la Citadelle (BE)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1186/s13023-025-03963-2
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fonds De La Recherche Scientifique - FNRS