Dihydropyrimidine Dehydrogenase Genotype, Varies
Use
This test is used to identify individuals with genetic variants in the DPYD gene who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment. It provides pharmacogenomic insights into 5-fluorouracil and capecitabine drug sensitivity, and can help in understanding the potential risk associated with these treatments due to dihydropyrimidine dehydrogenase deficiency.
Special Instructions
Not provided.
Limitations
The test evaluates only 8 common variants in the DPYD gene and does not detect or report other variants outside of these. It will not detect copy number variations. If results are negative, the presence of rare variants causing fluoropyrimidine toxicity cannot be ruled out. Testing results should be interpreted in context with clinical findings, family history, and other laboratory data. Large deletions or rearrangements are not detected and may affect DPD protein expression.
New York Approved
Methodology
PCR-based
Biomarkers
LOINC Codes
- 93199-8 - DPYD gene Mut Anl Bld/T
- 79719-1 - DPYD gene prod met act imp Bld/T-Imp
- 104665-5 - DPYD Activity Score Bld/T
- 45284-7 - DPYD gene Mut Anl Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
3-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Storage Instructions
Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |