Test utility

Identifying individuals with DPYD variants who are at increased risk of toxicity on fluoropyrimidines (5-fluorouracil/5-FU and capecitabine).

Clinical significance

DPYD encodes dihydropyrimidine dehydrogenase (DPD), the rate-limiting enzyme for fluoropyrimidine catabolism. 5-fluorouracil/5-FU and capecitabine are chemotherapy drugs for many types of cancers. Variants of DPYD can cause severe dose-related toxicities of 5-FU due to decreased DPYD activity. Capecitabine is a prodrug of 5-fluorouracil, being converted to 5-fluorouracil and also metabolized by DPD.

Genes/Alleles tested

DPYD *2A, *7, *8, *10, *12, *13, c.2846A>T, HapB3, c. 557A>G

Methodology

Polymerase Chain Reaction (PCR)

CPT Code

81232