Hereditary diseases

Asiatic Gilbert syndrome

29,500

Gilbert syndrome is a hereditary disorder associated with a defect in the UGT (glucuronyltransferase) gene, which is involved in bilirubin* metabolism in the body. This leads to an increase in bilirubin in the blood (usually not more than 80-100 µmol/l, with a significant predominance of indirect bilirubin) and to the occasional occurrence of moderate jaundice (yellow staining of the skin, mucous membranes, whites of the eyes). Other biochemical blood parameters and liver tests remain within normal limits.

Analysis description

UGTA1 gene variant G71R), by PCR-RV