UGT1A1 Gene Polymorphism (Nucleotide 'TA' Repeats) Detection Test
Short Name: UGT1A1 Polymorphism Test
Also known as: UGT1A1 TA Repeat Test, Gilbert's Syndrome Genetic Test, UGT1A1 Promoter Genotyping
UGT1A1 Gene Polymorphism (Nucleotide 'TA' Repeats) Detection Test test available at DNA Labs India for ₹7,500. Uses PCR, Fragment Analysis on Whole Blood (EDTA) samples. Results in Reports are available within 7 working days from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify genetic variations in the UGT1A1 gene promoter region, specifically the number of nucleotide TA repeats. These variations are associated with reduced or absent UGT1A1 enzymatic activity, which plays a critical role in bilirubin conjugation and drug detoxification. This testing is indicated for the diagnosis of Gilbert syndrome, differentiation from other hyperbilirubinemia conditions, and risk assessment for drug toxicity, particularly with medications metabolized by UGT1A1.
- Test Code
- 3717
- Price
- ₹7,500
- Sample Type
- Whole Blood (EDTA)
- Result Time
- Reports are available within 7 working days from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- PCR, Fragment Analysis
Sample Collection
No special preparation required. However, inform your healthcare provider about all medications you are currently taking, as some drugs may affect bilirubin levels.
Method: Venous blood draw
Laboratory Analysis
A blood sample is collected from a vein in your arm using a sterile needle. The procedure takes less than 5 minutes.
Report Delivery
You can resume normal activities immediately after sample collection. There are no activity restrictions.
Timeline: Reports are available within 7 working days from the date the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify genetic variations in the UGT1A1 gene promoter region, specifically the number of nucleotide TA repeats. These variations are associated with reduced or absent UGT1A1 enzymatic activity, which plays a critical role in bilirubin conjugation and drug detoxification. This testing is indicated for the diagnosis of Gilbert syndrome, differentiation from other hyperbilirubinemia conditions, and risk assessment for drug toxicity, particularly with medications metabolized by UGT1A1.
How to Prepare
- No special preparation required
- Sample must be collected in a lavender top (EDTA) tube
- Ship refrigerated at 2-8°C; do not freeze
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for UGT1A1 polymorphism can help identify individuals at risk of Gilbert syndrome and drug toxicity. Understanding one's genotype is important before starting medications such as irinotecan, and it also supports family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received frozen
- Hemolyzed sample
- Insufficient sample volume (less than 2 mL)
- Incorrectly labeled sample
- Clotted EDTA sample
Understanding Your Results
Homozygous wild type; normal UGT1A1 enzyme activity; low risk for Gilbert syndrome and drug toxicity.
Heterozygous; mildly reduced UGT1A1 activity; usually asymptomatic; intermediate drug metabolism risk.
Homozygous variant; significantly reduced UGT1A1 activity; associated with Gilbert syndrome and increased risk of drug toxicity (e.g., irinotecan).
Consult a clinician if you experience persistent jaundice, dark urine, abdominal pain, or if you have a family history of Gilbert syndrome or UGT1A1-related disorders. The test should be ordered by a qualified healthcare provider.
Limitations
- ⚠This test only detects variation in the TA repeat region of the UGT1A1 promoter; other genetic variants are not analyzed.
- ⚠Results correlate with Gilbert syndrome but do not exclude other causes of hyperbilirubinemia.
- ⚠Interpretation should be performed in conjunction with clinical findings and liver function tests.
Risks & Considerations
- ●Bruising at the injection site
- ●Dizziness or faintness
- ●Infection (rare)
Interfering Factors
- ●Hemolysis of the blood sample
- ●DNA degradation due to improper storage
- ●Rare UGT1A1 variants not detected by this assay
Frequently Asked Questions
What is the UGT1A1 gene polymorphism test?
What is Gilbert syndrome?
Who should consider getting this test?
Is fasting required before the test?
What is the cost of the UGT1A1 test at DNA Labs India?
How is the sample collected?
What do the results indicate?
How long does it take to get the results?
Can this test help with drug dosage decisions?
Does this test require any special preparation?
Is home sample collection available?
Are there any risks associated with this test?
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