Analysis of variant UGT1A1*28, important as diagnostic marker of Gilbert's syndrome and farmacogenetic marker of drug irinotecan
UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) is an enzyme which catalyzes glucuronidation of small lipophilic molecules such as bilirubin and anti-cancer drug irinotecan. Lower activity of this enzyme is associated with elevated level of plasma bilirubin, which is property of Gilbert's syndrome. Also, patients with lower UGT1A1 activity who are given standard doses of irinotecan might experience drug related toxicities. Detection of genetic variant UGT1A1*28, which is associated with lower UGT1A1 enzyme activity, is useful in diagnostics of Gilbert's syndrome and optimization of irinotecan therapy.
Material for genetic variant UGT1A1*28 detection is obtained by DNA extraction from peripheral blood. Fragment analysis method is used for detection of this genetic variant.
It is necessary to deliver 2.5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant in vol/vol ratio 9:1. It is possible to deliver a blood sample that has already been frozen. The samples are accepted every day from 10 to 13h. There is possibility to deliver the sample via post express service. The analysis is performed within 10 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.
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- dr Maja Stojiljković
- dr Branka Zukić
- dr Sonja Pavlović
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