Pharmacogenomics

Your new research partner

Pharmacogenomics (PGx) is an important research area for the development of psychotropic, cancer, pain, and cardiovascular medications. Thermo Fisher Scientific offers a variety of solutions to assist you with your PGx research. For fewer than 120 targets, quantitative PCR using well-established Applied Biosystems™ TaqMan™ Assays combined with the Applied Biosystems™ QuantStudio™ 12K Flex Real-Time PCR System and the Applied Biosystems™ OpenArray™ platform deliver a flexible, cost-saving, and high-throughput solution. For studies requiring interrogation of 120 or more genetic markers, the Ion AmpliSeq™ Pharmacogenomics Research Panel and Ion PGM™ System for next-generation sequencing enable a highly multiplexed workflow with flexible throughput at an affordable price.

PGx application note

A complete pharmacogenomics workflow using the QuantStudio 12K Flex Real-Time PCR System
Our sample-to-results PGx workflow for SNP and CNV analysis in DME genes.

Register for PGx webinar

A comparison of genotyping platforms for pharmacogenetic testing
Mark Borgman, Director of Clinical Laboratory Operations at PGXL Laboratories.

Ion AmpliSeq PGx Panel Poster

Free online tool translates results to star alleles when using TaqMan® Drug Metabolism Genotyping Assays and TaqMan® Copy Number Assays.

Experimental workflows

Simple workflows have been established for the analysis of mutations and copy number variants for drug metabolism enzyme (DME) genes, including CYP2D6, that enable you to achieve results in as little as one day. Based on your target sample throughput and the number of markers you need to analyze, there is a flexible solution to meet your needs.

Quantitative PCR solution using TaqMan Assays and the QuantStudio 12K Flex system
Quantitative PCR solution using TaqMan Assays and QuantStudio 12K Flex System

Choose from pre-defined Applied Biosystems™ TaqMan™ PGx panels or design your own using our 2,700 Applied Biosystems™ TaqMan™ DME Assays plus— custom TaqMan Assays.

Analyze copy number variants, including CYP2D6, using the QuantStudio 12K Flex system for the flexibility needed to adjust your throughput from one to hundreds of samples per day.

NGS solution using Ion AmpliSeq Pharmacogenomics Research Panel and Ion PGM System
NGS solution using Ion AmpliSeq Pharmacogenomics Research Panel and Ion PGM System
Simultaneous DME, SNP, Indel, and CNV analysis

Choose the Ion AmpliSeq Pharmacogenomics Research Panel for the simultaneous analysis of 136 SNP/indel events across 40 DME associated genes and 2 CYP2D6 CNV events (gene level and exon 9/*36 copy number changes). Sequencing library generation is simplified with the use of Ion AmpliSeq™ chemistry, enabling highly efficient enrichment of the loci of interest in a single multiplexed PCR. This allows the capture of both genotype and CNV information in a single assay. Also included in the panel are 9 amplicons used to generate a unique sample-specific genetic barcode useful for sample tracking purposes.
Learn more about Ion AmpliSeq Pharmacogenomics Panel gene and variants
 


This powerful and free online tool accepts both quantitative PCR and next-generation sequencing data and translates genotyping and copy number variation analysis data to star alleles.

Allele Typer Software

Literature
Application note