Technologies and equipment for PGx

There are several genotyping and sequencing technologies that are suitable for pharmacogenetic testing, each with their own benefits. Testing can be conducted using targeted genotyping of the most common function-affecting variants, or a sequencing approach that is more commonly used in variant discovery. The objective of pharmacogenomics detection is to identify genetic variants that influence drug metabolism and ultimately determine the phenotype associated with these variants.

In addition to detecting single nucleotide polymorphisms (SNPs) and short insertions and deletions (indels), testing for deletions and insertions of whole genes is necessary for certain pharmacogenes. This is especially true for the detection of copy number variation (CNV) of CYP2D6.

Our PGx Interpretation Service can accommodate data from virtually any type of genetic test as long as the critical variants for each included gene are included, so you can use your preferred platform.

Since the genes and variants of interest are already known, there is a wide range of technology options available for genetic analysis. This allows for flexibility in terms of pricing and selection, as laboratories can choose the most suitable technology based on their specific needs and budget.

Recommended reading:
van der Lee, M. et al. (2020) Technologies for Pharmacogenomics: A Review. Genes. 11, 1456. doi:10.3390/genes11121456