Crigler-Najjar Syndrome, Type 1 (UGT1A1) Targeted Testing

AKA: Hyperbilirubinemia, Crigler-Najjar Type 1
Short Name: UGT1A1 Targeted

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.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 218800
MedGen: 41346