The Axiom PharmacoFocus Assay offers comprehensive coverage of targeted high-evidence pharmacogenomic research content (Pharmacogenomic Knowledge Base annotation levels of evidence 1A-2B) with a cost-effective and high-throughput solution. The panel includes 2,000 variants in 150 genes and variants in regions of high homology to pseudo-genes (such as cytochrome P450 (CYP) genes), covers population diversity, and offers high accuracy and reproducibility.

The assay offers genotyping, copy number, and HLA typing, achieving three different technologies in a single workflow at a cost per sample that enables profiling hundreds to hundreds of thousands of samples. The assay is ideal for pharmacogenomic research in labs, academic hospitals, and health care centers, and for pharmaceutical companies with research applications in clinical trials.

Each Axiom PharmacoFocus Assay Kit, mini 96-array, includes all necessary array plates, reagents, controls, and consumables to process 94 samples and 2 controls.

Features of the Axiom PharmacoFocus Assay include:
• 2,000 markers in 150 genes of known pharmacogenomic value
• 88% of markers with PharmGKB annotation levels 1A-2B
• Accurate genotyping of markers in regions of high homology within CYP2C19, CYP2C8, CYP2D6, CYP2A6, CYP2B6, GSTM1, and SULT1A1
• Copy number variation (CNV) analysis for key ADME genes: CYP2D6, CYP2A6, GSTM1, GSTT1, UGB2B17, and SULT1A1
• HLA analysis with high resolution typing (2-and 4-digit) of the major histocompatibility complex (3 MHC Class I and 8 Class II loci) including HLA-A* and HLA-B* types with relevance in drug metabolism
• Star allele reporting with over 970 unique haplotypes across 66 gene regions with predicted gene phenotype

The Axiom PharmacoFocus Assay includes:
• Pharmacogenomic research markers with PharmGKB levels of evidence (levels 1A, 1B, 2A, 2B) accessed in Nov 2019. Majority of annotations associated with toxicity/adverse drug reactions and efficacy.
• Dutch Pharmacogenetics Working Group passport markers (accessed in Nov 2019)
• Open-Array TaqMan panels markers
• Human leukocyte antigen (HLA) markers in research of drug reactions

The Axiom PharmacoFocus Assay requires the Applied Biosystems GeneTitan Multi-Channel Instrument, a platform used worldwide by genetic researchers and known for an efficient workflow and high reproducibility. Axiom arrays are manufactured using photolithographic manufacturing technology known for 100% fidelity, ensuring all markers are available in any manufacturing batch.

The Axiom PharmacoFocus array data is analyzed with Applied Biosystems Axiom Analysis Suite software, which offers genotyping, copy number analysis, and optional star alleles reporting. The Axiom HLA Analysis software can also be used for HLA typing.