Crigler-Najjar syndromes are autosomal recessive inherited inborn disorders characterized by non-hemolytic unconjugated hyperbilirubinemia. Genetic variants of UDP-glucuronosyltransferase 1A1 gene (UGT1A1) resulting in the absence or decrease of enzyme activity have been reported in Crigler-Najjar. The c.222C>A (p.Tyr74*) variant in exon 1 of the UGT1A1 is the most frequent pathogenic variant found in the Old Order Amish and Mennonite populations. This targeted test will specifically analyze the c.222C>A variant.
1 - 2 weeks