Reference Materials for Pharmacogenetics (PGx)

The DPYD-Multiplex 50% AF gDNA universal control for testing dihydropyrimidine dehydrogenase (DPYD; DHP; DPD; DHPDHASE) that is not specific to any platform. The variants included were chosen based on published research and input from various working groups and thought leaders who advocate for the use of DPYD testing. Regulatory bodies such as the EMA and NHS recommend that all patients be screened for DPYD deficiency before starting systemic therapy with fluoropyrimidine drugs like 5-fluorouracil (5-FU), Capecitabine, Tegafur, and Flucytosine. This product contains one vial of genomic DNA at a 50% allele frequency for the specified mutations, supported by a thoroughly characterized genomic background. Mutations in this gene lead to DPYD deficiency, disrupting pyrimidine metabolism and causing thymine-uraciluria, which increases the risk of toxicity in cancer patients treated with 5-fluorouracil.

Therapeutic areas where DPYD mutation status is important:
– Colorectal cancer
– Gastric cancer, pancreatic cancer, esophageal cancer
– Breast cancer
– Squamous cell carcinoma of the head and neck
– Biliary tract cancers
– Non-small cell lung cancer (NSCLC)
– Systemic yeast and fungal infections caused by sensitive organisms

This product is particularly suited for Next Generation Sequencing (NGS) workflows, including:
– Validation and development of sequencing protocols (e.g., Whole Exome Sequencing (WES), Amplicon Sequencing) and PCR methods
– Calibration and optimization of instruments and workflows in DNA processing (e.g., DNA fragmentation through acoustic shearing, enzymatic digestion, or sonication)
– Evaluation of your NGS pipeline’s performance by comparing it to publicly available datasets.