Key result
Targeted genetic testing achieves ~83% diagnostic yield in childhood-onset cardiomyopathy versus untargeted sequencing.
Why the study?
Childhood-onset cardiomyopathy has largely unknown causes, and the influence of consanguinity on its genetics has not been addressed at a large scale.
What is the diagnostic yield of a categorized genetic testing approach in childhood-onset cardiomyopathy within a consanguineous population?
Comparison
Targeted genetic testing vs untargeted genetic testing with WES or WGS
Design
Consecutive cohort study
Authors
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Targeted testing may raise diagnostic yield in consanguineous childhood cardiomyopathy; supports categorized strategies but leaves open prospective validation.
Observational (n=205)
What is the diagnostic yield of a categorized genetic testing approach in childhood-onset cardiomyopathy within a consanguineous population?
Absolute Event Rate: 82.7% vs 33.6%
A categorized genetic testing approach in a consanguineous population with childhood-onset cardiomyopathy yielded a genetic diagnosis in 53.7% of cases, highlighting the high prevalence of homozygous variants and suggesting WES/WGS as a first-line test when founder mutations are not suspected.
Al‐Hassnan et al. (2020) conducted an observational in Childhood-onset cardiomyopathy (n=205). Targeted genetic test vs. Untargeted genetic test (WES/WGS) was evaluated on Diagnostic yield. Targeted genetic testing yielded a diagnosis in 82.7% of selected cases compared with 33.6% for untargeted sequencing, achieving an overall 53.7% yield in childhood-onset cardiomyopathy.
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