UGT1A TA Repeat Analysis

Test Background

It has been reported that different (TA)n genotypes (polymorphisms) at the promoter of UGT1A influence bilirubin levels at baseline and during hydroxyurea therapy. The polymorphic UGT1A genotypes may affect the ability of hydroxyurea to prevent gallstone formation in patients with sickle cell anemia (Heeney et al. J Lab Clin Med 141: 279-82, 2003). Patients with the UGT1A wild type/(TA)6/(TA)6 will normalize bilirubin levels, whereas heterozygous (TA)6/(TA)7 or homozygous (TA)7/(TA)7 genotypes are associated with failure to normalize bilirubin levels in response to hydroxyurea therapy. The (TA)7/(TA)7genotype is also associated with Gilbert syndrome. This laboratory performs repeat analysis for the UGT1A gene.

Gene(s)

UGT1A

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.