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Gilbert Syndrome

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Gilbert Syndrome

Gilbert syndrome is a relatively minor illness marked by episodes of increased blood levels of bilirubin, a poisonous chemical (hyperbilirubinemia). When red blood cells are broken down, an orange-yellow coloured bilirubin is generated. Only after a chemical reaction in the liver changes the harmful form of bilirubin (unconjugated bilirubin) to the harmless conjugated bilirubin is this material eliminated from the body. Unconjugated bilirubin builds up in the blood of people with Gilbert syndrome (unconjugated hyperbilirubinemia). Gilbert syndrome is most commonly diagnosed around adolescence. If patients with this illness have hyperbilirubinemia episodes, they are usually mild and occur when the body is under stress, such as from dehydration or lengthy periods without food. 

Gilbert syndrome is caused by mutations in the UGT1A1 gene. The bilirubin uridine diphosphateglucuronosyltransferase (bilirubin-UGT) enzyme, which is present largely in liver cells and is required for the elimination of bilirubin from the body, is encoded by this gene. The glucuronidation reaction is carried out by the bilirubin-UGT enzyme. The enzyme converts unconjugated bilirubin to conjugated bilirubin by transferring a molecule called glucuronic acid to it.

At geneOmbio technologies, the UGT1A1 genotyping test is performed on genomic DNA obtained from a patient's EDTA blood sample. Variations in the number of TA repeats in the TATAAA region of the 5' UGT1A1-promoter influence transcription efficiency. To check the number of TA repeats, we use polymerase chain reaction and DNA sequencing.

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