Familial hypercholesterolaemia – FH test

Test covered by the reimbursement:

YES

Test without reimbursement:

YES

Gender:

Woman/Man

Material:

Peripheral blood, Isolated DNA from blood

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube

Storage after examination: week after the report is issued 2 – 8°C

Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.

Storage after examination: stored in a DNA archive without restriction 15°C

Quick test description:

Testing for familial hypercholesterolaemia (FH) using SNP array.

Test details:

The SNP array method with Global Screening Array-24 v3.0 variant DTC booster chips is used for analysis of familial hypercholesterolaemia (FH test). Data are loaded into evaluation programmes: GenomeStudio and GLOBAL. The results of data processing by these software is genotyping of the annotated markers (rs) and the evaluation of the effect on familial hypercholesterolaemia. The FH test detects mutations with significant clinical effect in the Czech population, in the European population and mutations reported in international sources (753 LDLR gene mutations, 27 PCSK9 gene mutations and 6 APOB gene mutations). The SNP array also enables the detection of large genomic rearrangements (deletions and duplications) in genes tested.

The polygenic LDL-C 6SNP risk score (GLGC weight score) detects six variants of different genes including the APOE haplotype and their weighted effect on LDL-C values. Patients with a risk score belonging to the 20% of the highest scores (upper two deciles) have the highest risk of polygenic FH. The effect of a large-effect gene mutation also affects the risk score. Genotype also affects the efficacy and risk of side effects of FH treatment – mainly the most commonly used LDL-C-lowering drugs of the statin class. To estimate the efficacy and risk of adverse effects of statin therapy, the FH test detects the presence of the SLCO1B1, CYP2C9, APOE and ABCG2 gene variants.

To estimate the polygenic risk of atherosclerosis and the degree of efficacy of statin therapy, the FH test calculates a polygenic risk score (PRS) from 64 small-effect gene variants. Patients with PRS scores belonging to the 20% of the highest scores (upper two deciles) are expected to have the highest effect from statin therapy. The FH test also detects the presence of 16 rare PCSK9 gene variants with gain-of-function, the detection of which may support consideration for the indication of PCSK9 inhibitors.

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