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 Antolik; Jill Dolinsky