Cardiology

Session # B-116

Down the Rabbit Hole: Tales of A Tiered Approach to Genetic Testing for HCM

  • 28.6% of patients with HCM testing positive on a multigene panel test
  • Mutations in MYBPC3 and MYH7 make up the majority of mutations (68.7% collectively)
  • Double mutation carriers are uncommon (1.7%), and thus a tiered approach to testing beginning with MYH7 and MYBPC3 can detect the majority of mutation carriers while minimizing the identification of inconclusive variants

  • Authors: Heather Workman; Lily Hoang; Tami Johnston; Alizabeth Berg; Amybeth Weaver; Andrea Nagl; Dagny Noeth; Christian Anatolik; Jill Dolinsky
  • Conference: National Society of Genetic Counselors (NSGC)
  • Date: Thursday, Sep 14, 2017 5:45pm - 7:00pm

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