Reference Materials for Pharmacogenetics (PGx)

SensID has created the DPYD Multiplex 0% AF gDNA, a completely platform-independent control for testing dihydropyrimidine dehydrogenase (DPYD; DHP; DPD; DHPDHASE). The selected variants were chosen based on research publications and recommendations from various working groups and key opinion leaders advocating for the adoption of DPYD testing. Regulatory bodies like the EMA and NHS recommend that all patients be screened for DPYD deficiency before undergoing systemic treatment with FU-containing drugs, including 5-fluorouracil (5-FU), Capecitabine, Tegafur, and Flucytosine. This product includes a set of gDNA with a mutation frequency of 0%, 50%, or 100%, along with a highly characterized genomic background. Mutations in the DPYD gene lead to DPYD deficiency, a metabolic disorder affecting pyrimidine breakdown, which is linked to thymine-uraciluria and an increased risk of toxicity in cancer patients treated with 5-fluorouracil-based chemotherapy.

Therapeutic areas where DPYD mutation status is significant:

– Colorectal cancer
– Gastric, pancreatic, and oesophageal cancers
– 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

The DPYD Multiplex 0% AF gDNA is perfectly suited for Next Generation Sequencing (NGS) workflows, especially for:– Validation and development of sequencing methods (e.g., Whole Exome Sequencing (WES), Amplicon Sequencing) and PCR techniques
– Calibration and optimization of instruments and workflows for DNA processing (e.g., DNA fragmentation via acoustic shearing, enzymatic digestion, or sonication)
– Assessing the performance of your NGS pipeline by comparing it with freely available datasets.