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

Date:
Thursday, Sep 14, 2017 5:45pm – 7:00pm
Conference:
NSGC 2017
Authors:
Alizabeth Berg, Amybeth Weaver, Andrea Nagl, Christian Antolik, Dagny Noeth, Heather Workman, Jill Dolinsky, Lily Hoang, Tami Johnston
  • 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
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