Action PharmaKitDx

Protocol automated using Magnis NGS Prep System

Analysis of the main molecular markers related to the response to drugs, described in pharmacogenomic clinical practice guidelines and technical data sheets of drug regulatory agencies, by means of NGS sequencing.

16 rxn



Illumina MiSeq

Protocol automated using Magnis NGS Prep System

The drugs associated with this study are related to: central nervous system, immunosuppressive
agents, cardiovascular system, antineoplastic agents, anti-infective agents, genitourinary systemand sex hormones, digestive system and metabolism, analgesics, anesthetics and musculoskeletal system

  • Dynamic kit that updates the target genes of the panel according to scientific evidence..
  • Detection of SNVs and INDELs.
  • Detection of CNVs in CYP2D6.
  • Analysis software included.
  • STID: Integrated sample identification system for traceability.
  • Average coverage: > 900, with 99.62% of the bases covered at a depth of 30X.
  • Sensitivity: > 99%.
  • Specificity: > 99%.
  • Repeatability: > 99%.
  • Reproducibility: >99%.
  • Can use STIDs: sample tracking identification numbers for effective sample management
  • Fully-automated panel with a library ready in 9 hours on the Magnis Dx NGS Prep System platform
  • For in vitro diagnostic use.

Action PharmaKitDx employs a fully automated technology for library preparation and selection of regions of interest by hybridization with capture probes. Subsequently, massive sequencing is carried out on Illumina platforms.

  • Compatible sequencers: Illumina MiSeq
  • Number of reactions: 16
  • Number of samples per run: Illumina MiSeq V2 (300 cycles): 8
  • Sample type: Genomic DNA from peripheral blood
  • DNA quantity per sample: 100 ng
  • Genomic region analyzed: 0.408 Mb

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.

Action PharmaKitDx

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