Reduce hands-on time from days to minutes with Devyser’s easy-to-use NGS library prep kit for complete characterisation of genes involved in familial hypercholesterolemia.
Discover the advantages
- Analyse all genes relevant for diagnosis of Familial Hypercholesterolemia (FH)
- Simplify your laboratory workflow and reduce hands-on time to under 45 minutes
- Detect CNVs in the LDLR gene
Detect all FH mutations
Familial Hypercholesterolemia, also known as Autosomal Dominant Hypercholesterolemia (ADH), can be caused by mutations in the LDLR, APOB, PCSK9, APOE, STAP1 and LDLRAP1 genes, all of which can be detected with Devyser’s FH kit. Raised LDL-cholesterol concentrations can also have a polygenic cause that might explain the variable penetrance of the disease. Devyser’s FH kit enables the analysis of 12 polygenic SNPs influencing the LDL-cholesterol level.