Test Catalog

Test ID: U1A1V    
UDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by UGT1A1; especially irinotecan, but also including atazanavir, nilotinib, pazopanib, and belinostat

 

Identifying individuals with Gilbert syndrome due to the presence of homozygous UGT1A1*6 (c.211G->A) allele, TA7, homozygous TA8, or compound heterozygous *6, TA7 or TA8

 

Identifying individuals who are carriers of Gilbert syndrome due to the presence of heterozygous TA7 or TA8

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This pharmacogenomic test interrogates the thymine-adenine (TA) repeat in the TATA-box of the promoter region of UGT1A1. Repeat number may vary from 5 to 8 TA repeats, with 6 TA repeats representing the most common (normal) number of repeats. Individuals with more than 6 TA repeats may have an increased risk for adverse drug reactions to drugs metabolized by UGT1A1, especially atazanavir, irinotecan, nilotinib, pazopanib, and belinostat. Homozygosity for TA7, TA8, or compound heterozygosity for TA7/TA8 is also consistent with a diagnosis of Gilbert syndrome. Heterozygosity for TA7 or TA8 is consistent with carrier status for Gilbert syndrome. Note that this testing uses a tagging single nucleotide polymorphism (SNP) strategy for the TA5 and for the TA7 and TA8 repeats. This testing is not able to distinguish between TA7 and TA8 so when the tagging SNP is detected, TA7 is assigned. The function of genes with TA7 and TA8 repeats are thought to be the same. In addition, this test evaluates the UGT1A1*6 (c.211G->A) allele.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See UGT1A1 Test-Ordering Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Real-Time Polymerase Chain Reaction (PCR) with Allelic Discrimination Analysis

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

UGT1A1 Genotype

Aliases Lists additional common names for a test, as an aid in searching

Gilbert syndrome
GNT1
Irinotecan glucuronidation
Irinotecan metabolism
Phenol/Bilirubin UDP-Glucuronosyltransferase
UDP-Glucosyltransferase 1
UGT1A1
Uracil Glucuronyl transferase
Uridine Diphosphate Glucosyltransferase 1