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DPYD-Multiplex 0% AF gDNA

“DPYD-Multiplex 0% AF gDNA” is highly characterized human gDNA from a proprietary cell line. Mutation status of specific genes and Whole Exome Sequencing (WES) data are freely available on request via SensID. This product contains 1 vial with DPYD wildtype sequences.

SKU: SID-000134 Category:

Product Description

Reference materials for Pharmacogenetics (PGx)

SensID has developed a totally platform agnostic control for dihydropyrimidine dehydrogenase (DPYD; DHP; DPD; DHPDHASE) testing. The implemented variants were selected based on publications and suggestions of various working groups and key opinion leaders who support the implementation of DPYD testing. Authorities like EMA and NHS are recommending that all patients have to be tested for DPYD deficiency prior to systemic therapy with the FU-containing drugs 5-fluorouracil (5-FU), Capecitabine, Tegafur and Flucytosine. This product consist of 1 vial of gDNA at 0% allele frequency for below specified mutations with a highly characterized genomic background. Mutations in this gene result in DPYD deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy.

Therapeutic indications where DPYD mutation status is relevant:

  • colorectal cancer
  • gastric cancer, pancreatic cancer, oesophageal 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 due to sensitive organisms

This product is ideal for Next Generation Sequencing (NGS) workflows. In particular:
– Validation and development of sequencing protocols (e.g. Whole Genome Sequencing (WES), Amplicon Sequencing) and PCR protocols
– Calibration and development of instruments and workflows in DNA processing (e.g. DNA fragmentation via acoustic shearing, enzymatic digestion or sonication)
– Analyze the performance of your NGS pipeline by comparing to freely available datasets

Unit Size: 1000 ng per vial (1 vial in total)

Concentration: 10 ng/µl

Included mutations (ddPCR validated):

DPYD-Multiplex gDNA Mutation Overview
rs number HGVS Nomenclature Amino acid change Allele frequency
EMA recommended
rs56038477 (HapB3) c.1236G>A p.Glu412= 0%
rs67376798 (Polymorphism) c.2846A>T p.Asp949Val 0%
rs55886062 (*13A) c.1679T>G p.Ile560Ser 0%
rs3918290 (*2A) c.1905+1G>A Not provided 0%
Additional mutations covered:
rs75017182 (HapB3) c.1129–5923C>G Not provided 0%
rs72549309 (*7) c.295_298delTCAT p.Phe100fs 0%
rs115232898 c.557A>G p.Tyr186Cys 0%
rs56276561 (HapB3) c.483+18G>A Not provided 0%
rs1801160 (*6) c.2194G>A p.Val732Ile 0%

Further variants were investigated. See “additional mutations covered”.

Buffer: Tris-EDTA (10 mM Tris, 1 mM EDTA), pH 8,0

Storage: 2-8 °C

Expiry: stable for 24 months from date of manufacture (as supplied)

Quality control

Fragmentation size: Agarose Gel-Electrophoresis

Allelic Frequency (metrologically traceable): ddPCR

Quantification (metrologically traceable): Fluorometric dsDNA measurement (QuBit)

Technical background

Derived from: SensID proprietary cell line

Bioinformatics: Whole Exome Sequencing (WES) data available on request. Please send a Mail to info@sens-id.com.

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