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.
Get access to the paper by filling out the form below
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.
Related content
View allStreamlining familial hypercholesterolemia testing: How Sahlgrenska University Hospital laboratory optimized workflow with Devyser FH
Read More
New insights into thalassemia: Latest studies using Devyser Thalassemia for NGS testing
Read More
Devyser Diagnostics AB publishes quarterly report for the period April to June 2024
“Devyser continued to report high sales growth in the second quarter. Organic growth compared with...
Read More