Why the study?
Does an NGS-based genetic test improve the detection rate of pathogenic variants compared to Sanger sequencing in patients with HCM and DCM?
Population
Patients with hypertrophic (HCM) and dilated (DCM) cardiomyopathies
Comparison
Next generation sequencing based genetic test of… vs Sanger sequencing
Design
Other
Authors
Loading...
NGS panels may expand variant detection in HCM/DCM without sacrificing accuracy; leaves open prospective validation before routine adoption.
Does an NGS-based genetic test improve the detection rate of pathogenic variants compared to Sanger sequencing in patients with HCM and DCM?
NGS-based genetic testing of 23 cardiomyopathy genes provides the same accuracy as Sanger sequencing while increasing the detection rate of pathogenic variants, supporting its implementation in routine diagnostics.
Mook et al. (2013) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: