Challenges in Pharmacogenetic (PGx) Testing

Genetic factors account for 20-40% of the differences in individual drug metabolism and response1.US FDA reports costs for Adverse drug reaction (ADR) to be $136 billion annually2. Many technologies have inherent inefficiencies which drive up testing costs, waste resources and make PGx testing difficult and in impacts turnaround time. Typical issues are

Ventola CL. Role of pharmacogenomic biomarkers in predicting and improving drug response: part 1: the clinical significance of pharmacogenetic variants. P T. 2013;38(9):545–560.
Centers for Medicare and Medicaid Services. Available from: CMS; 2013. Accessed November 27, 2015.

PGx Solutions on MassARRAY

iPLEX Pro PGx74 Panel

The iPLEX Pro PGx74 panel is a pre-designed panel that targets the most relevant variants in 20 principle genes implicated in drug metabolism pathways. The panel provides genotype information for 69 SNPs/INDELs across 20 genes, plus 5 CNV targets in CYP2D6.

VeriDose™ CYP2D6 CNV Panel

CYP2D6 copy number variation (CNV) detection is a critical aspect of PGx testing as variations in the CYP2D6 gene affect drug metabolism. However, not all CYP2D6 alleles are functionally similar. Depending on ethnicity, up to 45% of the population possesses non-functional CYP2D6 “hybrid alleles” including *36, *13 and *68. Many copy number detection methods cannot differentiate between these non-functional “hybrid alleles” and other CYP2D6 alleles; resulting in an incorrect gene copy number or incorrect drug metabolism rate determination.

The VeriDose™ CYP2D6 CNV Panel accurately detects CNVs even in the presence of difficult to detect hybrid alleles. This assay can be run simultaneously with Agena’s genotyping panels. Seamless integration consolidates genotyping and CNV workflows.

Additional Pre-Designed PGx Panels

All assays are for research use only, not for use in diagnostic procedures.

Need a unique solution? SEQ-IT can help with custom assay design service.