Test Directory

DPYD Genotyping

Containers - Adult

RedCapTubeEDTAKE2.7ml.jpg
Red Cap Tube EDTA KE 2.7ml
Volume Range

2.7 ml Peripheral Blood

Additive per Container

EDTA

Laboratory Site

RIE
51 Little France Crescent
Old Dalkeith Road
Edinburgh
EH16 4SA
Telephone: 0131 536 1000

Transport arrangements

Specimens should be kept at room temperature and sent directly to the laboratory as soon as possible by internal mail or first class post.

How to request

Internal and external requests must be accompanied by a completed request form.

Molecular Pathology Request form v11_PDF.pdf

Availability

/Specialities/GeneScience/MolecularPathology/Pages/Contact

Monday - Friday. 09:00 – 17:00

Anticipated turnaround

A report should be available within 10 working days. See results.  For urgent requests, or if testing is required in advance of a specific treatment date, please contact the laboratory at the earliest opportunity.

Static information/disclaimer

This test is  accredited to ISO 15189:2012

General additional information

Germline variants in the dihydropyrimidine dehydrogenase (DPYD) gene can confer an increased risk of severe toxicity when a patient is treated with the fluoropyrimidines, capecitabine or 5-fluorouracil. The Clinical Pharmacogenetics Implementation Consortium (CPIC) recommends adjustment of therapy regimens to reduce the risk of toxicity in patients with sensitising variants within DPYD.

This assay is used for identification of patients carrying any of the following single nucleotide polymorphisms (SNPs) associated with increased toxicity when treated with 5-fluorouracil:

  • c.1236G>A p.(Glu412Glu)
  • c.2846A>T p.(Asp949Val)
  • c.1679T>G p.(Ile560Ser)
  • c.1905+1G>A p.(?)

Patients carrying one or more of these SNPs should be treated with a reduced dose of 5-fluorouracil to reduce the risk of the patient suffering a severe toxic event.

DPYD genotyping is perfomed using the Elucigene DPYD genotyping system, by real-time PCR or by Sanger sequencing.

 

​For clinical advice on appropriate investigations, please contact Dr Louise Gilroy:

Tel: 0131 242 7141

E-mail: louise.gilroy@nhslothian.scot.nhs.uk