Elucigene DPYD assay is a simple genotyping test that can identify patients with DPD deficiency allowing an alternative treatment to be offered
DPYD Genotyping
5-fluorouracil (5-FU) is a chemotherapy agent used to treat a range of cancers including colorectal, head and neck, breast, pancreatic and stomach cancer. 5-FU is metabolized by the dihydropyrimidine dehydrogenase enzyme (DPD) which is encoded by the DPYD gene.
Several variants within DPYD have been described that lead to reduced or abolished DPD activity. Patients with these variants are at an increased risk of severe or fatal 5-FU toxicity. Therefore, implementation of DPD deficiency screening by genotyping will allow a more accurate prediction of toxicity and chemotherapeutic response.
Watch our interview with the founder of 5FU Test Alliance Louise Brown below. 5FU Test Alliance is a patient representative organization founded to promote awareness of the important of DPYD testing. Louise talks about how the lack of DPYD testing affected her father Keith Gadd.
Clinical Guidelines
The Clinical Pharmacogenetics Consortium (CPIC) published a new guideline in 2017 for DPYD genotyping and they recommend testing for the 6 SNPs outlined above. The CPIC guidelines also recommend 5-FU dose based on DPYD genotype. For further information, please follow this link.
| Allelic Variant | rsID | Nucleotide Change | Protein Change | Allele Function |
|---|---|---|---|---|
| *2A | rs3918290 | c.1905+1G>A | N/A | No Function |
| *13 | rs55886062 | c.1679T>G | p.I560S | No Function |
| N/A | rs67376798 | c.2846A>T | p.D949V | Decreased |
| HapB3 | rs75017182 rs56038477 rs56276561 |
c.1129-5923C>G c.1236G>A c.483+18G>A |
N/A p.E412E N/A |
Decreased Decreased Decreased |
Key Features
The Elucigene DPYD assay allows for rapid detection of 6 clinically relevant variants in line with current CPIC Guidelines. The two tube assay is easy to set up and involves minimal hands on time. Results review and interpretation is simple with no data transfer required. The rapid 4 hour workflow allows the test to be incorporated into routine cancer care treatment pathways.
One PCR
- One or two tube analysis
- Tube A: mutation detection and polyT status
- Tube B: wildtype detection
- Simple PCR set-up
- Reduced hands on time
One Analysis
- No post-PCR manipulation
- Compatible with ABI 3*** and SeqStudio Genetic Analysers
- Highly multiplexed 5 dye chemistry
- Rapid Analysis
One Report
- GeneMarker and GeneMapper software applications
- Easy data review and analysis
- Informative single page reporting
- No data transfer required
Ordering Information
| Kit Name | Description | Platform | Catalogue Code |
|---|---|---|---|
|
Elucigene DPYD, CE-IVD |
DPYD screen testing for *2A, *13, c.2846A>T, HapB3 |
Genetic Analyser |
ONDYDB1 |
Elucigene kits are developed and manufactured within quality systems accredited to ISO9001:2008 and ISO13485:2003 and are validated as in vitro diagnostic devices in compliance with the European Community Directive 98/79/EC and the Canadian Medical Device Regulations (CMDR). Elucigene is a trademark of Delta Diagnostics (UK) Ltd. ARMS is a trademark of AstraZeneca UK Ltd. GeneMarker and GeneMapper are trademarks of SoftGenetics Corporation. VIC®, PET® and NED™ are trademarks of Life Technologies Corporation.
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