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Diagnostic yield and mutation spectrum of multigene panel testing for hypertrophic cardiomyopathy

Session:
#2420
Date:
Thursday, Oct 19, 2017 2:00pm – 3:00pm
Conference:
ASHG 2017
Authors:
Christian Antolik, Jill Dolinsky, Jing Wang, Lan Qin, Lily Hoang, Tami Johnston, Tina Pesaran, MA, MS, CGC
  • Hypertrophic cardiomyopathy is a genetically heterogeneous disease with reduced penetrance.
  • Genetic testing is of great utility in identifying pre-symptomatic at-risk individuals.
  • VUS were detected in 46% the tested individuals and the interpretation is challenging.
Abstract Poster