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15538: Dihydropyrimidine Dehydrogenase (dpd) Gene Mutation Analysis Print View
DPD Gene Mutation      
Referring Physician:      
Physician's Phone Number:      

1 Whole Blood EDTA 5 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Sodium Heparin   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Plasma Lithium Heparin 5 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Whole Blood ACD Sol B 5 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Whole Blood ACD Sol A 5 (3) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  

Partial or complete deficiency of DPD activity has been associated with an increased risk for severe adverse reactions when treated with pyrimidine-based chemotherapeutic agents, such as 5-fluorouracil (5-FU). The test can also be used to confirm the clinical diagnosis of dihydropyrimidine dehydrogenase (DPD) deficiency in affected patients and for the detection of the IVS14+1G>A mutation in asymptomatic carriers.

Whole blood: Normal phlebotomy procedure. Specimen stability is
crucial. Store and ship ambient immediately. Do not freeze.
Setup Schedule
Monday, Thursday

Reported (Analytical Time)
5 days

CPT Code

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

*The 2012 AMA CPT codebook contains Tier 1 and Tier 2 Molecular Pathology Procedures as well as Molecular Pathology Procedures to be coded by procedure rather than analyte. Please direct any questions regarding coding to the payor being billed.

Reject Criteria Samples received frozen.

Methodology Polymerase Chain Reaction (PCR), Single Nucleotide Primer Extension

The test identifies the IVS14+1G>A mutation, which accounts for approximately 50% of DPD deficiency alleles. Individuals with one copy of the IVS14+1G>A mutation are predicted to have significant side effects when treated with standard doses of 5-FU and caution should be taken when treating with any pyrimidine based therapy. This test does not detect other variations or mutations in the DPD gene which may impair 5-FU or pyrimidine based therapy metabolism and detoxification, nor does it examine other genetic or non-genetic modifiers of DPD metabolism.

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