Gilbert Syndrome
Analysis ID 81
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Gilbert Syndrome
OMIM #143500
Clinical information Gilbert syndrome (mild hyperbilirubinemia) is a genetic disorder of bilirubin metabolism. Disease occurs with a frequency of 5-7% in population, more frequently in males than females. Inheritance is usually autosomal recessive. Patients with Gilbert syndrome have reduced activity of bilirubin glucuronyltransferase, which results in increased level of bilirubin (hyperbilirubinemia) and jaundice. Hyperbilirubinemia is usually discovered by incidence. Several factors, such as physical effort, infections, malnutrition, fat-rich meal, alcohol may provoke occurrence of flu-like symptoms (fatigue, headache, stomachache and vomiting). Final confirmation can be made bye means of genetic analysis.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes UGT1A1
Analysis description Sequencing analysis of the promoter region of UGT1A1 gene (a single polymorphism - insertion of TA - in the promoter region is responsible for about 40% cases)
Analysis indication Symptoms of Gilbert syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders