ResourceLife Sciences
Familial hypercholesterolemia: Genetic diagnosis and cascade testing using NGS
21 Sept 2026This whitepaper reviews the role of next-generation sequencing (NGS) in the diagnosis and family screening of familial hypercholesterolemia (FH), a common inherited disorder associated with elevated LDL cholesterol and increased cardiovascular risk. Discover how genetic testing can complement clinical diagnosis, improve identification of disease-causing variants, and support cascade screening of at-risk relatives. Explore insights into the genetic complexity of FH, the advantages of NGS over traditional testing methods, and the potential clinical and health-economic benefits of earlier diagnosis and targeted treatment.
Resource details:
Resource type: Whitepaper
Page count: 5
Read time: 8 mins
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Next-Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Genetic Testing