DPYD variants: More insight. Less risk.

Explore how expanded DPYD testing is changing PGx research

What is DPYD and why it deserves greater attention

Normal DPD vs. DPD DeficiencyDihydropyrimidine dehydrogenase (DPD) is the essential enzyme responsible for breaking down pyridimine-based chemotherapy drugs such as 5-fluorouracil (5-FU) and capecitabine. The DPYD gene encodes DPD, and variants in this gene can result in decreased enzyme activity.

For individuals with these variants, fluoropyrimidine drugs can build up to toxic levels. Although the science has been clear for years, the tools to explore this risk with complete and efficient variant coverage have only just caught up.

  • 3–8% of the population carries functionally significant DPYD variants.*
  • Up to 40% of these individuals may experience severe toxicity when treated with standard fluoropyrimidine doses.

1 Amstutz, U., et al. (2018). Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines update for DPYD and fluoropyrimidine dosing. Clinical Pharmacology & Therapeutics, 103(2), 210–216. (https://doi.org/10.1002/cpt.911). 2 Lunenburg, C.A.T.C., et al. (2020). Prospective DPYD genotyping to reduce the risk of fluoropyrimidine-induced severe toxicity: Ready for prime time. European Journal of Cancer, 124, 47–56.( http://dx.doi.org/10.1016/j.ejca.2015.11.008)

Connecting DPYD variants to 5-FU toxicity and chemotherapy response

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Genetic Insights

Supports indentification of contributors to chemotheraphy-related toxicity

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Population-Level Impact

Characterizes risk profiles across diverse populations

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Safer Study designs

Informs designs of targeted oncology research protocols

Prepare for tomorrow’s standards today

Recent advances in pharmacogenomics research have highlighted the critical importance of comprehensive DPYD variant screening in oncology research studies. The Association for Molecular Pathology (AMP) recommendations now recognize multiple DPYD variants as clinically actionable, driving increased demand for thorough variant analysis in research settings.

Population diversity in DPYD variants

Researchers worldwide are investigating how DPYD polymorphisms affect drug metabolism across diverse populations, contributing to precision medicine research initiatives.

Recent research published in the Journal of Molecular Diagnostics reveals significant population-specific differences in DPYD variant frequencies across diverse ethnic groups, highlighting critical gaps that genomics research must address. Key variants show markedly different prevalence patterns: c.1129-5923C>G (HapB3) ranges from 0.06% in East Asian populations to 2.4% in Middle Eastern populations, while c.557A>G shows the highest frequency in individuals of African genetic ancestry at up to 2.1%.

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Population-exclusive variants like c.868A>G (African and Middle Eastern populations only) and c.2279C>T (primarily South Asian at 0.5%) demonstrate why comprehensive variant panels are essential for multinational research studies.

This growing body of evidence supports the implementation of pre-emptive DPYD genotyping in research protocols to understand chemotherapy response variability better and optimize study designs.

The VeriDose® DPYD Plus Panel

The VeriDose® DPYD Plus Panel (RUO) enables robust, AMP-aligned variant analysis with:

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18 VARIANTS

18 total variants (AMP Tier 1 & Tier 2 + 4 additional markers)

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MUILTIPLEXED DESIGN

A cost-effective, multiplexed design using MassARRAY® technology

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COMBINED WORKFLOW

Compatibility with other Agena PGx panels for combined runs and streamlined workflows

“ We needed a solution that could deliver broad DPYD coverage in a scalable format. The MassARRAY® System and the Agena panel gave us that — the ability to run all the variants we care about in a single well, with the efficiency we needed for a multi-site program.

– Jai Patel, PharmD, BCOP

Director of Pharmacogenomics, Atrium Health

How labs can take the next step

Laboratories can align their DPYD research with the updated AMP recommendations. In 2024, AMP outlined 13 DPYD variants as Tier 1 or Tier 2 based on their functional impact and prevalence. This provides labs and researchers with a common language and a crucial benchmark for building research panels that accurately reflect the current state of the science.

  • The VeriDose® DPYD Plus Panel is the first research use only (RUO) panel to include all 13 AMP Tier 1 and Tier 2 variants.
  • It also includes 4 additional markers of growing interest, designed to help future-proof your research.

The panel is designed for research laboratories conducting pharmacogenomics research. Whether you’re an academic research institution, reference laboratory, or pharmaceutical research organization, our solution scales to meet your genomics needs.

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Academic Medical Centers

Generate comprehensive DPYD variant data for publications and grant applications with confidence in your molecular genomics results

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Reference Laboratories

Expand your genomics service offerings with a proven, scalable DPYD research solution

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Pharmaceutical Research

Generate the pharmacogenomics research data needed for companion research applications and regulatory submissions

Download the white paper

Be the first to see how this panel performs in the real world.

Download our pre-launch white paper and get early access to the performance white paper, which features real-world data from three beta testing sites.

  • Why complete AMP Tier 1 and Tier 2 coverage is becoming the new standard
  • How DPYD analysis integrates into scalable PGx research workflows
  • Panel design choices, variant rationale, and technical considerations
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