Session # 2420T

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

• 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.

• Authors: Lan Qin; Jing Wang; Lily Hoang; Tami Johnston; Jill Dolinsky; Tina Pesaran; Christian Antolik
• Conference: ASHG 2017
• Date: Thursday, Oct 19, 2017 2:00pm - 3:00pm