DPYD Mutations Detection

Test Overview

Fluoropyrimidines such as 5-flurouracil (5-FU), capecitabine and tegafur are commonly used drugs for treating solid tumors. These drugs are metabolized in the liver by enzyme dihydropyrimidine dehydrogenase (DPD) which inactivates more than 80% of these drugs. Certain single point mutations in the gene encoding this enzyme, DPYD can result in no/reduced activity of the enzyme leading to toxicity. Spectrum of severity of toxicity varies wherein patients with decreased DPD activity may experience diarrhea, nausea, vomiting, may require hospitalization and dose reduction, patients with complete lack of DPD activity may experience life threatening toxicity and need to be removed from the therapy.

The TRUPCR® DPYD Mutations Detection Kit is an in vitro diagnostic test intended for the detection of clinically relevant single nucleotide polymorphisms (SNPs); c.1905+1G>A (rs3918290, also IVS14+1G>A, allele 2A*), c.1679T>G (rs55886062, allele 13*), c.2846A>T (rs67376798) and c.1129–5923C>G (rs75017182, HapB3) in dihydropyrimidine dehydrogenase (DPD) enzyme encoding gene DPYD from human genomic DNA, extracted from blood/bone marrow.

Principle and Procedure:

The TRUPCR® DPYD Mutations Detection Kit is based on allele specific amplification and is achieved by ARMS PCR. The detection of the SNPs is achieved in multiplex reactions using fluorescent probes labeled with FAM/HEX or TEXAS RED where FAM/HEX inform about the SNP of interest, TEXAS RED acts as an internal reference. The internal reference is the part of the DPYD gene with no known mutation. .