Molecular testing of the DPYD gene

The enzyme dihydropyrimidine dehydrogenase (DPD), encoded by the DPYD gene, plays a primary role in the catabolism of fluoropyrimidines, which are used as chemotherapeutic agents in a variety of solid tumors of adenocarcinoma or squamous cell origin. Although fluoropyrimidine therapy is generally well tolerated, in some patients they can cause severe hematological, neurological, and gastrointestinal toxicity. Several studies have shown an association between variants in the DPYD gene and a reduction or loss of DPD enzyme activity, which increases the accumulation of fluoropyrimidines and therefore the risk of toxicity in patients carrying such variants and undergoing fluoropyrimidine therapy. As each variant in the DPYD gene may lead to a different effect on DPD enzyme activity, fluoropyrimidine dosage may be adjusted based on guidelines. Therefore, molecular assessment of DPYD gene variants may be useful for individualizing fluoropyrimidine chemotherapy and significantly reducing the risk of fluoropyrimidine toxicity.

A small amount of blood (~10 ml) is taken, as in a routine hematology test. In the event that the blood collection is not performed at Microdiagnostics facilities, the blood should be collected in a 10ml EDTA blood collection vial.

Transport conditions: The vial with the blood is kept at refrigerator temperature (preservation) and after collection, it is recommended to be transported at Microdiagnostics facilities as soon as possible.

Contact us immediately to arrange for its safe and rapid transport to our laboratory. You will also need to quickly and easily complete the Consent Form.

These are the drugs that contain 5-fluorouracil (5-FU) and capecitabine .

DPYD genetic testing is used in the following cases:

1) Before administration of 5-FU or capecitabine .
2) In patients who experienced unexplained toxicity

If a patient experiences serious side effects at the beginning of treatment, such as:

Severe myelosuppression
Mucositis , diarrhea , vomiting ,
Neurotoxicity or cardiotoxicity ,
then testing for DPYD mutations should be performed so that the dose can be readjusted/administration discontinued.

If detected:

Total DPD deficiency: The drug is contraindicated (not to be administered).
Partial DPD deficiency: A reduced dose (25–50% of the usual) is administered , with close monitoring.

Benefits:

Prevention of severe toxicity
Improving treatment safety
Reduction of hospitalizations and costs

A small amount of blood (~10 ml) is taken, as in a routine hematology test. In the event that the blood collection is not performed at Microdiagnostics facilities, the blood should be collected in a 10ml EDTA blood collection vial.

Transport conditions: The vial with the blood is kept at refrigerator temperature (preservation) and after collection, it is recommended to be transported at Microdiagnostics facilities as soon as possible.

Contact us immediately to arrange for its safe and rapid transport to our laboratory. You will also need to quickly and easily complete the Consent Form.

Contact us at 2310 23 22 72 and we will immediately assist you in quickly transporting the sample to our laboratory.

By cash, bank card, bank deposit, or Online interbank deposit.

One of the primary concerns at Microdiagnostics is the protection of your personal data as well as the strict observance of the conditions for the protection of your genetic material and medical results.

In full compliance with the General Data Protection Regulation (GDPR), we ensure that any test conducted is done with your knowledge and consent and we do not communicate results over the phone.