Cardiology

Session # n/a

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.

  • Authors: Tami Johnston; Sara Calicchia; Melissa Dempsey; Brian Schoenfeld; Brigette Tippin Davis; Jill Dolinsky
  • Conference: HRS 2016
  • Date: Wednesday, May 04, 2016 1:00pm - 4:20pm

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