Seraseq® DPYD DNA Mutation Mix

The Seraseq DPYD DNA Mutation Mix is a reference material specifically designed for use in the development, validation, and routine performance evaluation of molecular assays that detect critical mutations in the DPYD gene.

The DPYD gene encodes the dihydropyrimidine dehydrogenase (DPD) enzyme, which is essential for the metabolism of fluoropyrimidine drugs, including fluorouracil (Adrucil^®), tegafur, and capecitabine (Xeloda^®). These drugs are commonly used in chemotherapy treatments for cancer patients. Mutations in the DPYD gene can lead to DPD enzyme deficiency, resulting in severe and potentially life-threatening toxicities when patients are treated with these medications. Accurate detection of DPYD mutations is, therefore, crucial for improving patient safety and personalizing chemotherapy regimens.

This highly multiplexed reference material includes 39 DPYD variants meticulously selected based on expert recommendations, clinical guidelines from global authorities such as CPIC, EMA, and DPWG, as well as input from national public health programs and current commercial assay panels. The mutation mix features variants that are clinically non-functional affecting drug response including newly recognized ones in non-caucasian populations. To address the gap often seen in existing assay panels, variants from diverse ethnic groups were included to create the first truly pan-ethnic DPYD reference material.

 FEATURES AND BENEFITS

• Develop and validate DPYD assays with confidence using a highly multiplexed reference material containing 39 clinically important DPYD mutations in a single vial.
• Variants are present within a single well-characterized genomic background (GM24385) at clinically relevant allele frequencies, precisely quantitated by digital PCR and orthogonally verified by NGS.
• Manufacturing of large batches with long shelf-life allows for repeated use of the same lot for validation, or assay performance assessment over time.