Molecular genetic diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)

Crigler-Najjar syndrome is a congenital hereditary malignant unconjugated hyperbilirubinemia characterized by jaundice and damage to the nervous system. There are two types of the disease, differing in severity. It is inherited in an autosomal recessive manner. The syndrome is very rare, with an incidence rate of 1 case per 1 million newborns. Hyperbilirubinemia is a consequence of impaired conjugation of bilirubin with glucuronic acid in the liver, caused by the absence or significant deficiency of the enzyme uridine diphosphate glucuronosyltransferase (UDP-GT). It is caused by pathogenic variants in the UGT1A1 gene.

Within 11 days. The specified time does not include the day of biomaterial collection