5-fluorouracil treatment relevance (5-FU) - DPYD1

5-Fluorouracil (5-FU) is widely and successfully used for the treatment of solid tumors. The drug is rapidly metabolized in the liver. The initial and rate-limiting enzyme of the detoxification pathway is dihydropyrimidine dehydrogenase (DPD). Only a small portion of the administered drug becomes active in the targeted tumor tissue. About 3-5% of patients treated with 5-FU will not adequately metabolize the drug and as quickly as anticipated, and will accumulate high levels of the drug. In most of these cases a variation in the intron 14 splice site (IVS14+1 G>A) of the DPD-encoding gene DPYD is responsible. Heterozygous patients should receive lower doses of 5-FU, while homozygous patients should be treated with alternative chemotherapeutics in order to avoid life-threatening toxic side effects.

Detection:  We offer DNA test for the detection of the most frequent IVS14+1 G>A variation of DPYD gene using the PCR-amplification followed by reverse-hybridization technique.

Specimen Requirements:  genomic DNA is isolated from the peripheral blood, collected in 2 ml EDTA Vacutainer tube (lavender top). In case if DNA is already extracted, the minimum concentration should be 25 ng/µl.

Transportation: The blood specimen can be stored in the refrigerator (for 1 or 2 days) and shipped to CMG at room temperature. In case of the DNA, it can be shipped to CMG at room temperature within 1-2 days.

Turnaround time: 2-3 days

For further information please contact:
Tel.: (+374 10) 544367
Fax: (+374 10) 544366
E-mail: infocmg@genetics.sci.am

Price: 20 000 AMD