Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies
Use
This pharmacogenomic test identifies individuals at increased risk of toxicity from fluoropyrimidine chemotherapy (5-fluorouracil and capecitabine) by detecting common and rare variants associated with decreased or absent DPD enzyme activity, aiding in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for dihydropyrimidine dehydrogenase deficiency ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/610051?utm_source=openai)).
Special Instructions
If skin biopsy or cultured fibroblast specimens are submitted, fibroblast culture will be performed at additional charge. A previous hematopoietic stem cell or liver transplant can interfere with testing—call Mayo Clinic Laboratories for guidance. Informed consent is required for New York clients, to be documented on the request form or electronic order ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/610051?utm_source=openai)).
Limitations
Some gene regions may not be effectively evaluated due to technical limitations such as regions of homology, high GC content, and repetitive sequences. If full gene sequencing was previously performed, this test may focus on identifying copy number variants. Results from specimens contaminated by donor DNA (e.g., post–stem cell transplant, recent transfusion) may not reflect recipient's genotype. This test is not designed to provide specific dosing recommendations and should be used only as a clinical decision aid ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/610051?utm_source=openai)).
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 94198-9
- 104665-5
- 79719-1
- 82939-0
- 69047-9
- 85069-3
- 62364-5
- 48767-8
- 18771-6
Result Turnaround Time
6-10 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) or yellow top (ACD), acceptable gray top (sodium fluoride/potassium oxalate)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
Previous hematopoietic stem cell transplant or liver transplant may interfere; consult Mayo Clinic Laboratories.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |