Get Infiniti Ugt1a1 Assay - Autogenomics

UGT1A1*28 contains seven TA repeats in the promoter, and this extra TA repeat results in decreased UGT1A1 transcription efficiency,35 leading to reduced UGT1A1 expression. 34. It is commonly found in African (43%) and European ancestries (39%), but is less common in East Asian ancestry (16%).

Genetics Test Information This is a full gene sequencing test for UGT1A1 that includes the TA repeat region of the promoter and all intron/exon boundaries. Results are interpreted for the purposes of UGT1A1 drug metabolism and hereditary hyperbilirubinemia syndromes (Gilbert syndrome and Crigler-Najjar syndrome).

Genetic testing of the UGT1A1 gene is currently considered an important method for confirming Gilbert syndrome and Crigler–Najjar syndrome. As the prognosis is generally good, Gilbert syndrome does not require diet therapy or specific treatments.

The uridine diphosphate glucuronosyltransferase 1A1 gene (UGT1A1) assay is an example of a pharmacogenetic test. Numerous variants have been found in UGT1A1, the main conjugating enzyme of bilirubin and drugs such as the anticancer drug .

UGT1A1*1 is the wild-type allele associated with normal enzyme activity. The most common variant allele is UGT1A1*28, which is commonly found in African-Americans (0.42–0.45 allele frequency) and Caucasians (0.26–0.31), and is less common in Asian populations (0.09–0.16) (27, 28).

Individuals with Gilbert syndrome have a reduced level of hepatic bilirubin UDP-glucuronosyltransferase 1A1 (UGT1A1), the enzyme necessary for the conjugation of bilirubin. This enzyme is encoded for by the UGT1A1 gene on chromosome 2q37.

The test is used to determine the Gilbert's syndrome, Crigler-Najjar syndrome.

Emerging data on the role of genetic variants in the UGT1A1 gene confirm that the UGT1A1*28 allele is associated with severe toxicities in -based chemotherapy. Additionally, it seems that patients with the allele were also associated with better outcome, despite severe toxicities.