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Dihydropyrimidine Dehydrogenase (DPYD) Genotype
Test Code18573
CPT Codes
81232
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube, or ACD (yellow-top) tube
Patient Preparation
Saliva: Do NOT eat, drink, smoke or chew gum for 30 minutes before collection. Do NOT remove the plastic film from the funnel lid.
Buccal: Do NOT eat, drink, smoke or chew gum for 30 minutes before collection. Do NOT touch swab or allow contact with any other object.
Minimum Volume
2 mL whole blood • 3 mL saliva • 1 swab
Other Acceptable Specimens
4 mL saliva collected in an OGD-500 or OGD-600 Oragene-Dx • 1 buccal swab collected in an OCD100A, ORAcollect-Dx DNA collection kit
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 30 days
Refrigerated: 8 days
Frozen: Unacceptable
Saliva/buccal
Room temperature: 30 days
Refrigerated: 30 days
Frozen: 30 days
Room temperature: 30 days
Refrigerated: 8 days
Frozen: Unacceptable
Saliva/buccal
Room temperature: 30 days
Refrigerated: 30 days
Frozen: 30 days
Methodology
Microarray • Real-Time Polymerase Chain Reaction
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Mon, Tues, Thurs, Sat; Report available: 9-25 days
Reference Range
See Laboratory Report
Clinical Significance
Dihydropyrimidine dehydrogenase, an enzyme encoded by the DPYD gene, is responsible for metabolizing fluoropyrimidines (5-fluorouracil (5-FU) and capecitabine) which are chemotherapeutic drugs frequently used to treat many types of cancer, including colorectal, breast, and cancers of the aerodigestive tract. Germline variants in DPYD affect enzyme production, which may result in an increased risk of significant, potentially fatal toxicity.
