Familial hypercholesterolemia: Genetic diagnosis and cascade testing using NGS

At present, FH is greatly underdiagnosed, and most cases are not discovered until the affected individual suffers his or her first cardiovascular event.

This paper by Peter Benedek and Kristina Duvefelt, Karolinska University Hospital, Stockholm, Sweden, introduces the clinical diagnosis, indicators and symptoms, and treatment of FH, before examining the background and current status of genetic testing for FH, and new best practices enabled by Next Generation Sequencing.

• Clinical diagnosis, indicators and symptoms, and treatment of FH.
• Background and current status of genetic testing for FH.
• New best practices enabled by Next Generation Sequencing.