DPYD (5 gene mutations)

Molecular assay for the detection of clinically relevant DPYD variants by Real-Time PCR

Overview

The DPYD gene encodes dihydropyrimidine dehydrogenase (DPD), the rate-limiting enzyme in the catabolism of pyrimidines and fluoropyrimidine drugs, including 5-fluorouracil (5-FU) and capecitabine.

Genetic variants in DPYD may lead to reduced or absent enzymatic activity, resulting in altered metabolic capacity.

Biological and Clinical Context

DPD deficiency is an inherited disorder of pyrimidine metabolism associated with reduced or absent enzymatic activity.

Clinical manifestations may range from asymptomatic presentations to severe neurological impairment, including:

• early-onset or neonatal seizures
• global developmental delay / intellectual disability
• hypotonia
• microcephaly

In addition, reduced DPD activity has been associated with variability in fluoropyrimidine metabolism and with an increased risk of adverse reactions during treatment with these compounds.

The role of DPYD variants in this context is extensively documented in the scientific literature and represents one of the most established examples in pharmacogenetics.

DPYD (5 gene mutations) – Key Features

DPYD (5 gene mutations) Kit enables the detection of selected clinically relevant variants of the DPYD gene using multiplex Real-Time PCR technology.

The assay is designed to support genetic characterization in patients with suspected DPD deficiency and to provide reliable molecular data for specialist interpretation.

Target Variants

The test detects the following DPYD variants:

• c.1905+1G>A
• c.1129-5923C>G
• c.2846A>T
• c.1679T>G
• c.2194G>A

These variants are among the most widely studied in relation to DPD enzymatic activity.

Clinical Relevance

The DPYD Genotyping Kit enables the identification of genetic variants associated with reduced DPD activity, providing molecular information relevant for the characterization of variability in fluoropyrimidine metabolism.

The test supports laboratory and clinical interpretation in the context of both inherited metabolic disorders and pharmacogenetic variability. 

Why choose DPYD (5 gene mutations) Kit

• Targeted detection of clinically relevant DPYD variants
• Multiplex Real-Time PCR with allele-specific amplification
• High analytical reliability and reproducibility
• Compatible with standard laboratory workflows
• CE-IVDR compliant

Technical specifications

Targets:
Detection of 5 DPYD variants:

• c.1905+1G>A
• c.1129-5923C>G
• c.2846A>T
• c.1679T>G
• c.2194G>A

Sample type:

• Genomic DNA extracted from peripheral blood (EDTA)

Nucleic acid extraction:

• Manual extraction: QIAamp DNA Mini Kit
• Automated extraction: CloNext systems

Real-Time PCR Instruments

• Applied Biosystems 7500 Fast (ThermoFisher Scientific)
• Rotor-Gene Q MDx (QIAGEN)
• CFX96 Real-Time PCR Detection System (Bio-Rad)
• ELITe InGenius® System and ELITe BeGenius® (ELITechGroup S.p.A.)

Time to result: ~1 hour 40 minutes
Format: 24 tests
Storage: -20°C