Gilberts Syndrome Testing

Gilbert's syndrome is a benign form of unconjugated hyperbilirubinaemia. The majority of the cases are attributed to a polymorphic variant (TA repeats) in the promoter of the UGT1A1 gene in which 7 copies (TA)7 exist instead of the usual six. The (TA)7 variant is associated with increased bilirubin levels in otherwise healthy individuals, who are at risk of developing gallstones at an early age. Gilbert's syndrome is found in individuals with the 7/7 genotype, which can impact on a patient's health if inherited in combination with disorders of high red cell turnover, such as sickle cell disease and thalassaemia. Individuals with an unexplained raised bilirubin (>20 µmol/L in the serum) would benefit from the investigation of Gilbert's syndrome. The size of the TA dinucleotide repeats in the promoter of the UGT1A1 gene is assessed by a high resolution genotyping assay.