U1A1 - Overview: UDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1

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Test ID: U1A1    
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 nilotinib, pazopanib, and belinostat

 

Identifying individuals with Gilbert syndrome due to the presence of homozygous TA7, homozygous TA8, or compound heterozygous TA7/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 test or proper submission of the test request

This genetic 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 greater than 6 TA repeats may have an increased risk for adverse drug reactions to drugs metabolized by UGT1A1, especially 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.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See UGT1A1 Test-Ordering Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Polymerase Chain Reaction (PCR) with Fragment Analysis by Capillary Gel Electrophoresis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

UGT1A1 TA Repeat Genotype

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

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

Key