Gilbert’s syndrome is the frequently occurring hereditary disorder of bilirubin metabolism (noted in 5-10% of Europeans). It is an autosomal recessive disease associated with the decreased activity of bilirubin glucuronosyltransferase enzyme, which is caused by a mutation in the promoter region of the UGT1A1 gene.
In the presence of Gilbert’s syndrome in patients, an individual pharmacogenetic approach to the treatment of a variety of diseases is required. It is extremely important to consider the likelihood of side-effects resulting from the administration of many antiviral medications.
Our Institute conducts a test for the presence of a mutation in the promoter region of the UGT1A1 gene leading to the development of Gilbert’s syndrome. The study material is buccal epithelium (the superficial cell layer of the internal cavity tissue) collected using a cotton swab.