Multigene panel testing for arrhythmias: Diagnostic yield and phenotypic spectrum

A genetic etiology is suspected in some patients with arrhythmias. While mutations in at least 36 genes are associated with arrhythmias, at least 65% of LQTS cases have been attributed to mutations in KCNH2, KCNQ1, and SCN5A, and 15-30% of patients with BrS have mutations in SCN5A. Over 50% of CPVT has been attributed to RYR2 mutations. Multigene panel tests (MGPT) are a testing option for patients with arrhythmias; however, clinicians should weigh options for reducing extraneous results while ensuring comprehensive testing.