Pharmacogenetic Testing – DPYD at MICRODIAGNOSTICS

Dr. Garyfalia Karponi

Background

♦ The DPD enzyme:

√ Is encoded by the DPYD gene

√ Plays a primary role in the catabolism of fluoropyrimidines, which are used therapeutically in a wide range of solid tumors

The problem

♦ Although treatment with fluoropyrimidines is generally well tolerated:

√ In some patients, it may cause severe hematological, neurological and gastrointestinal toxicity

The cause

♦ The literature demonstrates:

√ An association between variants of the DPYD gene and reduced or absent activity of the DPD enzyme, and therefore the risk of toxicity in patients

The solution

♦ Since each variant in the DPYD gene may have a different effect on the activity of the DPD enzyme:

√ The fluoropyrimidine dose can be adjusted based on guidelines

√ The risk of fluoropyrimidine-related toxicity can be significantly reduced

The recommendation

♦ Testing for variants in the DPYD gene:

√ Is performed in our Laboratory

√ Required sample: 1–2 EDTA blood collection tubes

√ Blood sampling can be performed at our Laboratory by appointment, or you may send the sample with ice packs

√ Turnaround time until the result: 6–7 working days

Please contact us with any questions.

Garyfalia Karponi, MSc, PhD

Molecular Biologist-Geneticist

Chief Scientific Officer, Department of Molecular Diagnostics