Pharmacogenetics – PGX 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 congenital predispositions affecting drug metabolism by SNP array.

Test details:

The SNP array method with Global Screening Array-24 v3.0 variant DTC booster chips is used for pharmacogenetic analysis (PGX 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 pharmacogenetic assay. 

The basic pharmacogenetic information source is the PharmGKB online database. PharmGKB provides annotations of clinical guidelines developed by the Clinical Pharmacological Implementation Consortium (CPIC) and other professional organisations. It also summarises recommendations from both the US and European drug agencies (FDA, EMA). For the pharmacogenetic individual report, data classified in PharmGKB into categories 1 and 2 with developed indication procedures and evidence of pharmacogenetic association are used. Drugs are listed according to the name of the active substance and its classification in the Anatomical-Therapeutic-Chemical (ATC) group according to WHO. 

Variants of genes encoding enzymes (e.g. CYP2D6, CYP2C19) involved in the metabolism of multiple drugs are tested. Based on the genotype, the activity of these enzymes can be estimated and categorised as follows: Poor (PM), Intermediate (IM), Normal (NM), Rapid (RM) and Ultrarapid (UM) metabolizers and effects on drug properties. Individual variants of genes relevant for certain drugs are also tested. Surrogate variants with strong binding to HLA are used to test HLA genes. For each variant, the test focuses on minor (alternative) forms (alleles) of these variants that are associated with a change in pharmacokinetics or drug dynamics compared to carriers of the major (reference) genotype.

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