Molecular Genetic Testing
5-Fluorouracil (5-FU)-Related Toxicity (DPD , Dihydropyridine Dehydrogenase Mutation)

Indication and Diagnostic Value

Deficiency of DPD, the rate – limiting enzyme in 5-FU catabolism, has been linked to toxic side effects of 5-FU. The most prominent mutation IVS14+1G>A results in absence of DPD enzymatic activity, and consequently, accumulation of cytotoxic metabolites. Chemotherapy in patients with 5-FU related toxicity then leads to fiver, diarrhoea, stomatitis, leucocytopenia or pancytopenia. Therefore, the genetic test helps to define patients who should be exposed to 5-FU with caution.

Samples and Test Method

This test requires 0.5-3.0ml of EDTA blood. Samples should arrive at our laboratory within 48hrs after blood collection. Blood stain paper can not be used ! The test detects the IVS14+1G>A mutation by PCR and DNA sequencing. The specificity of this procedure reaches almost 100%.

Turnaround time for this test is 2 weeks.

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