NGS Controls & Reference Materials
Pharmacogenomics
SHOP PRODUCTS
Pharmacogenomics is the study of how an individual's genetic makeup influences their response to medications. By understanding genetic variations, healthcare providers can tailor drug therapies to improve efficacy and reduce adverse effects, making treatments more personalized and effective. This field is crucial in identifying the right drug and dosage for each patient, thereby optimizing therapeutic outcomes and minimizing harmful side effects.
Reference materials are essential in pharmacogenomics because they provide standardized benchmarks for validating and ensuring the accuracy of genetic tests. These materials, such as those offered by SeraCare, help laboratories and researchers verify that their assays can accurately detect genetic variations that affect drug metabolism and response. Without reliable reference materials, the risk of inaccurate test results increases, potentially leading to improper treatment decisions. Thus, having high-quality reference materials is critical for advancing personalized medicine and ensuring patient safety in clinical settings.
DPYD Genetic Testing
This test analyzes the DPYD gene, which encodes the enzyme dihydropyrimidine dehydrogenase (DPD). The enzyme plays a crucial role in the metabolism of fluoropyrimidines, a class of chemotherapeutic agents including 5-fluorouracil (5-FU) and capecitabine used in the last 50 years to treat many types of cancers. However, approximately 2-8% of patients have variations in the DPYD gene that lead to reduced or absent DPD enzyme activity. These genetic variations can result in severe, and sometimes fatal, toxicity when standard doses of fluoropyrimidines are administered.
SeraCare Seraseq® DPYD DNA Mutation Mix is a highly multiplexed reference material containing 39 DPYD variants which were carefully selected based on clinical guidelines/recommendations (CPIC, EMA, DPWG), national public health programs and commercial assay panels.
The mutation mix includes variants known for being clinically non-functional or variants with unknown function found in higher frequency in various ethnic to create the 1st pan-ethic DPDY reference material.
This product can be used alongside clinical samples to validate and monitor assay performance across the entire workflow. It can also help in identifying systematic errors and sources of variability within the testing process, such as issues with reagents, instruments, or human error. By aiding test accuracy assessment, this reference material can increase healthcare providers’ confidence in their patient test results, thus enhancing the safety and effectiveness of cancer treatments, paving the way for more personalized and precision medicine.
Features & Benefits:
- Highly multiplexed reference material with 39 DPYD variants in a single vial
- First pan-ethnic DPYD reference material with variants from diverse ethnic groups
- Clinically-relevant variants conferring no or decreased DPYD gene function
- Contains 4 times more variants than competitive offerings
- 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.
