PharmaKit DX

The Action PharmaKitDx determines pharmacogenetic variants by next-generation sequencing, in order to support drug choice and dosing. CE marked for in vitro diagnostic use.

Panel structure

The panel is organised in three tiers: 20 main pharmacogenes, 12 secondary genes, and 303 candidate genes included for research purposes. Detected variant types are single nucleotide variants, small insertions and deletions, and copy number variants, with CYP2D6 the gene for which copy number matters most, because deletions and duplications determine the metaboliser status.

Drug classes

The reported variants concern cardiovascular drugs, drugs acting on the central nervous system, immunosuppressants, antineoplastic drugs, anti-infectives and drugs whose metabolism is affected.

Method

Library preparation is automated and uses hybridisation capture, on the Magnis NGS Prep System, followed by sequencing on the Illumina MiSeq. The input is 100 ng of genomic DNA, usually extracted from peripheral blood. The manufacturer reports sensitivity, specificity, repeatability and reproducibility above 99 per cent.

Regulatory status

This kit is CE marked for in vitro diagnostic use.

The kit is equipped with reagents for 16 reactions, including:

• KIT-Gen Master Mix: Includes oligonucleotides, fluorescent hydrolysis probes (FAM and VIC), and water for amplifying and detecting the alleles under scrutiny.
• General Master Mix: PCR Master Mix containing nucleotides, MgCl2, enzyme, and buffer for real-time PCR.
• Positive Control: A control that simultaneously amplifies the mutated and wild-type alleles (simulating a heterozygous sample).