Mayo Clinic Laboratories > Genetics > Pharmacogenomics > Medication-targeted testing

Medication-targeted testing 

Guide therapy selection

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.

Medication-targeted testing Test menu

Targeted panels Targeted panels
Single gene testing Single gene testing

Targeted panels

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.

Key testing

  • TPMT3 | Thiopurine Methyltransferase Activity Profile, Erythrocytes
    • 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.
  • TPNUQ | Thiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping, Varies
    • Uses patients’ genetic information to predict thiopurine metabolism.
    • Evaluates for specific variants in both TPMT and NUDT15, which impact the metabolism of thiopurine drugs.
    • Testing NUDT15 is key in detecting important genetic variants that impact thiopurine metabolism and are more prevalent than TPMT variants in Asian and Hispanic populations.1
  • WARSQ | Warfarin Response Genotype, Varies
    • 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.
  • CARBR | Carbamazepine Hypersensitivity Pharmacogenomics, Varies
    • 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.

Highlights

TPNUQ genotyping assay

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.

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Single gene testing

Analysis of a single gene can help guide therapy when assessing a single medication.

Arylamine N-acetyltransferase type 2 (NAT2)

Catechol-O-Methyltransferase (COMT)

Dihydropyrimidine Dehydrogenase (DPYD)

Glucose-6-Phosphate Dehydrogenase (G6PD)

Human leukocyte antigen (HLA)

Interleukin 28B (IL28B)

Solute carrier organic anion transporter family member 1B1 (SLCO1B1)

UDP-Glucuronosyltransferase 1A1 (UGT1A1)

Highlights

Comprehensive Genetic Test Guides Prescribing of a Transplant Anti-Rejection Drug: Jessica Wright, Pharm.D., BCACP

Jessica Wright, Pharm.D., BCACP, explains how Mayo Clinic Laboratories' 3A5Q test helps determine initial tacrolimus doses for individuals after non-liver organ transplants. Optimal tacrolimus levels are one of the important factors in survival of the transplanted organ.

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Genetic Tests Identify Risk of Irinotecan-Induced Toxicity: John Logan Black, M.D.

John Logan Black, M.D., explains how Mayo Clinic Laboratories' UGT1A1 tests (Mayo IDs: U1A1Q and UGTFZ) identify genetic variants that increase the risk of potentially life-threatening reactions to irinotecan, a chemotherapy agent.

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Genetic Tests Identify Risk of Fluoropyrimidine-Induced Toxicity: Ann Moyer, M.D., Ph.D.

Ann Moyer, M.D., Ph.D., explains how Mayo Clinic Laboratories' unique genetic tests identify patients at high risk of severe reactions to fluoropyrimidines — a type of chemotherapy drug. Test results can guide clinical decision-making for safer cancer treatment.

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References
  1. Moyer AM. NUDT15: A bench to bedside success story. Clin Biochem. 2021 Jun;92:1-8. doi:10.1016/j.clinbiochem.2021.02.007. Epub 2021 Mar 4. PMID: 33675810
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