DPD 5-Fluorouracil Toxicity

CPT: 81400
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Test Details

Synonyms

  • 5FU
  • Dihydropyrimidine Dehydrogenase

Use

Variability in response (efficacy and toxicity) to 5-fluorouracil (5-FU) chemotherapy has been linked to the rate-limiting enzyme in the drug's catabolic pathway, known as dihydropyrimidine dehydrogenase (DPD).

Limitations

This procedure will only detect the presence of the wild type or mutant allele for the DPD IVS14+1G>A mutation.

Methodology

Polymerase chain reaction (PCR); restriction enzyme digestion; gel electrophoresis

Additional Information

DPD deficiency results in excessive amounts of 5-FU available to be anabolized to its active metabolite and is relatively undetectable by clinical observation prior to 5-FU administration. Extensive studies have associated both profound and partial deficiency in DPD activity with severe unanticipated toxicity after 5-FU administration. Numerous studies genotyping DPD deficient patients, their family members, and healthy individuals have shown that the splice-site mutation (IVS14+1G>A) is the most characterized and frequently observed allele associated with decreased DPD enzyme activity. Screening for the presence of this mutation in the Caucasian population showed frequencies of 0.91% homozygous and 1.8% heterozygous for the IVS14+1G>A allele.

Specimen Requirements

Specimen

Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

Volume

7 mL whole blood or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab

Clinical Information

References

Lee A, Ezzeldin H, Fourie J, Diasio R. Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy. Clin Adv Hematol Oncol. 2004 Aug; 2(8):527-532. 16163233
van Kuilenburg AB, Muller EW, Haasjes J, et al. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency. Clinical Cancer Research. 2001 May; 7(5):1149-1153.11350878

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511176 DPD 5-Fluorouracil Toxicity 511186 Result: 45284-7
511176 DPD 5-Fluorouracil Toxicity 511235 Mutation: N/A
511176 DPD 5-Fluorouracil Toxicity 511189 Director Review: 72486-4

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