While the use of high-throughput sequencing (NGS) for diagnostic purposes is becoming commonplace, the limitations of its performance and the problems associated with the interpretation of certain ambiguous results remain.
The Montpellier Neuromuscular Reference Centre reports work supported by AFM-Telethon on the difficulties encountered, in real life, in 156 patients affected by a hereditary muscular pathology. All had benefited from the latest algorithms and techniques from NGS.
- 74 patients were able to see their genetic anomaly perfectly identified,
- in 18 of them, the correlations between clinical picture and NGS data were less clear, one of the pitfalls being intra-familial phenotypic variability.
