Pharmacogenes

We can accommodate data from any genetic test as long as the critical variants are included for all the desired genes. We happily assist you to include all necessary components to ensure a useful and effective outcome.

Recommended relevant genes

The following genes are deemed as highly relevant, either due to having a published dosing guideline or being mentioned in a drug label as a significant predictor of drug response or as a possible contraindication (for certain genotype carriers). Testing for these genes with genotyping is appropriate.

Tier 1 – Essential*

CYP2B6
CYP2C19
CYP2C9
CYP2D6
CYP3A5
CYP4F2
DPYD
F5
G6PD
IFNL3
NUDT15
SLCO1B1
TPMT
UGT1A1
VKORC1

Tier 2 – Optional**

BCHE
F2
NAT2

* Dosing guidelines published.
** Gene mentioned in a drug label with significant implications.

Variant selection and prioritisation are based on global and population-level allele frequencies, phenotype effects, CPIC (Clinical Pharmacogenetics Implementation Consortium) guidelines, and on allele selection guidelines by the Association for Molecular Pathology for CYP2C19, CYP2C9 and CYP2D6.

HLA genes

The HLA (Human Leukocyte Antigen) genes are very useful in pharmacogenetically guided drug prescribing. HLA genes are best interpreted through sequencing-based testing rather than SNP genotyping alone, as recommended by Abomics.