Table 4.

Diagnostic Yield of Commonly Used Cardiac Genetic Tests

TestMethodologyDiagnostic Yield
Cardiomyopathy, arrhythmogenic right ventricularSequencing40%–60%
Cardiomyopathy, dilatedSequencing20%–30%
Cardiomyopathy, hypertrophicSequencing30%–50%*
Channelopathy, Brugada syndromeSequencing25%–30%
Channelopathy, catecholaminergic polymorphic ventricular tachycardiaSequencing55%–65%
Channelopathy, long-QT syndromeSequencing70%–75%
Congenital heart disease, nonsyndromicSequencing and/or chromosome microarray3%–10%
Congenital heart disease, syndromicSequencing and/or chromosome microarray25%–35%
Familial hypercholesterolemiaSequencing60%–80%
Familial thoracic aortic aneurysm and dissectionSequencing25%
Marfan syndromeSequencing and deletion/duplication90%–95%
  • * The detection rate was 30% in unselected probands and 50% or higher in familial cases.45