PharmaKit DX

Precision Pharmacogenomics for Personalized Medicine

Action PharmaKitDx offers a comprehensive solution for the detection of pharmacogenomic variants across 300 genes relevant to drug response, dosing, and adverse reactions. Utilizing fully automated library preparation and hybridization capture, the kit sequences genomic regions with high coverage, enabling clinicians and molecular laboratories to make informed therapeutic decisions.

Clinical Relevance

The kit focuses on 20 main pharmacogenes, 12 secondary genes, and 303 candidate genes for research and emerging clinical applications. Variants detected include single nucleotide variants (SNVs), small insertions/deletions (INDELs), and copy number variations (CNVs), such as those in CYP2D6. Action PharmaKitDx facilitates pharmacogenomic-guided therapy for multiple drug classes, including cardiovascular agents, CNS drugs, immunosuppressants, antineoplastics, anti-infectives, and metabolism-related drugs.

Workflow and Technology

The workflow is optimized for the Illumina MiSeq platform, using the Magnis NGS Prep System for automated library preparation. The assay ensures high depth and coverage, with >99% sensitivity, specificity, repeatability, and reproducibility. Sample input requires only 100 ng of genomic DNA, typically extracted from peripheral blood.

Advancing Precision Medicine

By providing a broad, high-resolution view of genetic variants that influence drug response, the kit empowers molecular laboratories and clinicians to deliver personalized treatment strategies. Action PharmaKitDx represents a critical step toward safer, more effective, and individualized therapies in clinical pharmacogenomics.

Action PharmaKitDx has been designed to sequence more than 120,000 nucleotides across 300 genes. These genes have been divided into three groups (main, secondary, and candidate), according to their relevance in clinical practice.
There are pecific dosing strategies for variants in main and secondary genes (32) for more than 130 drugs.

• Main genes (20 genes): ABCG2, CACNA1S, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A5, CYP4F2, DPYD, F5, G6PD, HLA-A, HLA-B, IFNL3, NUDT15, RYR1, SLCO1B1, TPMT, UGT1A1, VKORC1.
• Secondary genes (12 genes): ABCC3, CALU, COMT, CYP1A2, CYP2C18, CYP3A4, GGCX, NAT1, NAT2, RARG, SLC28A3, UGT1A6.
• Candidate genes (303 genes): Regions awaiting clinical validation and/or of interest for research projects. For specific information, contact to our clinical team.