Australian geneticists report on their experience in using more sophisticated high-throughput sequencing techniques (NGS for next-generation sequencing) or transcriptomic studies in the context of a molecular diagnostic laboratory for neuromuscular diseases:
- faced with the negativity of conventional whole exome sequencing (WES) or gene panel studies in certain patients, the authors used either RNASeq or whole genome sequencing (WGS), or both,
- this involved a total of 247 families,
- the diagnostic yield, initially 34%, almost doubled to 62%.
- in the vast majority of cases (96%), the variants identified belonged to known genes.
This feedback illustrates the situation faced by many diagnostic laboratories on a day-to-day basis. The fact remains that 38% of unsolved cases are still enigmas.
