Uridine Diphosphate (UDP) Glucuronosyltransferase 1A1 TA Repeat Genotype, UGT1A1, Varies
Use
This pharmacogenomic test interrogates the thymine‑adenine (TA) repeat in the TATA‑box promoter region of UGT1A1 and evaluates the UGT1A1*6 (c.211G>A) allele. Variability in TA repeat counts (TA5–TA8) affects UGT1A1 enzymatic activity. Individuals with TA7, TA8, or compound heterozygous configurations exhibit reduced activity associated with Gilbert syndrome or increased risk of adverse drug reactions, especially to irinotecan and other UGT1A1‑metabolized drugs. The test is not informative for Crigler‑Najjar syndrome. Reduced UGT1A1 expression due to TA repeat variation and UGT1A1*6 variant elevates risk of adverse drug outcomes. Samples from individuals with recent transfusions or transplants may yield inaccurate results unless pre‑transplant DNA is used. Male liver or kidney dysfunction also independently affects drug response risk.
Special Instructions
Not provided.
Limitations
The assay targets only TA5–TA8 repeats and UGT1A1*6; rare or additional variants outside these are not detected. Sequencing is available for full gene coverage. The tagging SNP method cannot distinguish between TA7 and TA8. Donor DNA from transfusions or transplant recipients may impact genotyping; reversion may occur 6 weeks post transfusion. Results from liver transplant recipients may not reflect the patient's genotype. Organ dysfunction may independently affect drug toxicity risk.
Methodology
PCR-based (PCR)
Biomarkers
UGT1A1
Gene
LOINC Codes
- 34509-0 - UGT1A1 gene Mut Anl Bld/T
- 93845-6 - UGT1A1 allele Geno Bld/T
- 79718-3 - UGT1A1 gene prod met act imp Bld/T-Imp
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
3-6 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
