For specific medications with well-established pharmacogenomic associations, targeted gene testing can identify variations that impact treatment response. Our single- and multi-gene medication-targeted assays can help guide therapy choices, enabling treatment optimization for specific drugs with well-established pharmacogenomic associations.
Certain medications, among them mood stabilizers, blood thinners, and thiopurines, are more likely to result in toxicity or have a potential for lack of efficacy in individuals with genetic variants related to metabolism or the immune system. Our medication-targeted panels can reveal genetic variants that can impact a patient’s ability to metabolize a particular drug.
Measures enzyme activity in patient's blood to determine thiopurine metabolism.
Measures TPMT activity using three enzyme substrates in separate reactions, reducing inconclusive results as compared to using only one substrate to measure TPMT activity.
Uses bioinformatic analysis from Collaborative Laboratory Integrated Reports (CLIR), an interpretive report that integrates results from the three enzyme reactions and provides phenotypic and dosing guidance regarding normal, reduced, deficient, or hyperactive TPMT activity.
Assesses CYP2C9, VKORC1, CYP4F2, and rs12777823 for variants affecting the metabolism of warfarin (Coumadin).
Identifies patients who may require warfarin dosing adjustment, including those initiating warfarin and patients who have required significant dosing adjustments to achieve international normalized ratio (INR) in the therapeutic range.
Identifies individuals with specific human leukocyte antigen (HLA) alleles that are implicated in the development of certain cutaneous adverse reactions to aromatic anticonvulsants, prior to therapy initiation.
Genotyping of HLA-B*15:02, which is strongly associated with a greater risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in patients treated with carbamazepine or oxcarbazepine.
Genotyping of HLA-A*31:01, which is associated with increased risk of maculopapular exanthema, drug reaction with eosinophilia and systemic symptoms, and SJS/TEN in patients treated with carbamazepine.
Ann Moyer, M.D., Ph.D., discusses TPNUQ, Mayo Clinic Laboratories' genotyping test for identifying patients at risk for thiopurine toxicity. Used prior to therapy initiation, our assay evaluates for nuances in both TPMT and NUDT15, which have associations to thiopurine metabolization.
Single gene testing
Analysis of a single gene can help guide therapy when assessing a single medication.