Key result
Whole exome sequencing achieved a genetic diagnosis in 37% of extensively investigated families with limb girdle muscular dystrophy, compared to 33% using standard sequential gene testing.
Why the study?
Does whole exome sequencing improve the diagnostic rate compared to sequential gene testing in patients with undiagnosed limb girdle muscular dystrophy?
Observational (n=195)
No
Does whole exome sequencing improve the diagnostic rate compared to sequential gene testing in patients with undiagnosed limb girdle muscular dystrophy?
Absolute Event Rate: 37% vs 33%
Whole exome sequencing achieves a higher diagnostic yield than standard sequential gene testing in patients with limb girdle muscular dystrophy, even in extensively investigated cohorts.
No takes yet. Share an insight, caveat, or question.
May support WES use in select LGMD cases; leaves open whether it should replace sequential testing in practice.
Harris et al. (2017) conducted an observational in Limb Girdle Muscular Dystrophy (n=195). Whole exome sequencing (WES) vs. Sequential gene by gene testing was evaluated on Genetic diagnosis rate per family. Whole exome sequencing achieved a genetic diagnosis in 37% of extensively investigated families with limb girdle muscular dystrophy, compared to 33% using standard sequential gene testing.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: