DPYD Genotyping

Overview

Test Name
DPYD Genotyping
Test Code
SG1001
Test Category
Single Gene Tests
Test Subcategory
Pharmacogenomic
Disease(s) Targeted
DPYD
Who Is The Test For?
This test is for patients prior to starting chemotherapy to assess genetic changes in the DPYD gene.
Variants
DPYD *2A, DPYD *13, DPYD HapB3, DPYD c.2846
Deliverables
Turnaround Time

2-5 days

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About DPYD

DPYD is the gene that provides the instructions for making the DPD enzyme dihydropyrimidine dehydrogenase.

This is an important enzyme because it helps the body metabolise certain substances, including fluoropyrimidine-based chemotherapies, such as 5-fluorouracil (5-FU), which are used to treat a variety of cancers.


Most people have two working copies of the DPYD gene, one inherited from their mother and the other from their father. When the DPYD gene does not work properly due to certain changes (variations) in the gene, the body may not produce enough DPD enzyme, resulting in DPD deficiency.
People with DPD deficiency may not have enough DPD enzyme to breakdown some chemotherapies safely. This can lead to a build-up of drug in the body during treatment, which may result in toxic side effects, which sometimes can be life threatening.

The test will help Healthcare Practitioners to decide on the best and safest course of treatment for patients. If variation is identified in the DPYD gene, Health Practitioners may adjust the dosage of patients chemotherapy of choose an alternative treatment if necessary.

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