Devyser FH NGS

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.

Genes included in the Devyser FH gene panel

LDLR	APOB	PCSK9

LDLRAP1	APOE	STAP1

Sequencing of 12 polygenic FH SNPs

rs629301	rs1564348	rs1800562	rs2479409

rs3757354	rs4299376	rs6511720	rs8017377

rs11220462	rs1367117	rs429358	rs7412

Selection of relevant SNPs based on: Talmud et al, Lancet 2013; 381:1293-1301

Predict the effects of statin therapy

Statin drugs are highly effective in lowering blood concentrations of LDL-cholesterol, with concomitant reduction in risk of major cardiovascular events. Although statins are generally regarded as safe and well-tolerated, there is an interindividual difference in the response to statin treatment and some users may develop muscle symptoms, myopathy. Devyser FH enables the detection of several SNPs associated with treatment effect and adverse reactions to statin therapy.

Sequencing of 6 SNPs involved in statin response

rs429358	rs7412	rs646776

rs4149056	rs3798220	rs10455872

Benefits of FH mutation testing

The main benefit of a genetic diagnosis is that cascade testing can be used to identify affected biological relatives of FH index individuals and begin appropriate interventions early.

Designed for routine laboratory use

The Devyser FH kit is easy to implement and a highly cost-effective solution for NGS library preparation. With ready-to-use reagents and a user-friendly workflow, it suits both manual and automated processes.