UGT1A1 Gene Polymorphism: Booking, Price, and Results
About UGT1A1 Gene Polymorphism Test
| Field | Value |
|---|---|
| Also Known As | UGT1A1 TA Repeat Test, UGT1A1 Genotyping, UDP-Glucuronosyltransferase 1A1 Gene Test, Gilbert Syndrome Genotyping |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | All genders and age groups; particularly cancer patients starting irinotecan therapy and individuals with suspected Gilbert syndrome |
| Price | Starting at ₹7,200 |
What is a UGT1A1 Gene Polymorphism?
The UGT1A1 gene polymorphism test is a genetic test that analyses variations in the UGT1A1 gene. This gene controls the production of an enzyme that breaks down bilirubin (a yellow substance produced when red blood cells are processed) and certain medications in the body. Doctors order this test to identify inherited gene variants that may cause elevated bilirubin levels or increase the risk of side effects from specific drugs. It is also known as the UGT1A1 TA Repeat Test or UGT1A1 Genotyping.
What Does a UGT1A1 Gene Polymorphism Measure?
The UGT1A1 gene polymorphism test examines the number of TA repeats (short DNA sequences) in the promoter region of the UGT1A1 gene. The number of these repeats directly affects how well the UGT1A1 enzyme works. The test identifies which genotype (genetic pattern) a person carries, which in turn indicates their enzyme activity level.
The following genotypes are assessed:
| Genotype | TA Repeats | Enzyme Activity | Clinical Significance |
|---|---|---|---|
| *1/*1 (6/6) | Homozygous 6 TA | Normal activity | Normal metaboliser |
| *1/*28 (6/7) | Heterozygous | Intermediate (approx. 70% of normal) | Mild increase in drug toxicity risk |
| *28/*28 (7/7) | Homozygous 7 TA | Reduced (approx. 30 to 40% of normal) | Higher drug toxicity risk is associated with Gilbert syndrome |
| *36 (TA5) | 5 TA repeats | Increased activity | Associated with higher metabolic activity |
Why is a UGT1A1 Gene Polymorphism Done?
This test is prescribed for several clinical reasons, ranging from unexplained jaundice to pre-chemotherapy drug safety assessment.
Common Symptoms That May Require This Test
The following symptoms may lead a doctor to request this test:
- Unexplained yellowing of the skin or eyes (jaundice)
- Persistently elevated bilirubin levels on routine blood tests
- Suspected adverse reaction to a drug processed by the UGT1A1 enzyme
- Family history of high bilirubin (hyperbilirubinaemia)
- Gastrointestinal side effects during chemotherapy
- Yellowing of the eyes with no evidence of liver disease
Conditions This Test Can Help Detect
This test can provide information relevant to the following conditions:
- Gilbert syndrome: A common inherited condition causing mild, fluctuating high bilirubin and occasional jaundice, often with no other symptoms.
- Crigler-Najjar syndrome (types I and II): A rare inherited disorder involving severely reduced or absent UGT1A1 enzyme activity.
- Drug toxicity risk: Identifies patients at increased risk of serious side effects from irinotecan (a chemotherapy drug) and other medications metabolised by UGT1A1.
How to Prepare and What to Expect
No special preparation is needed for the UGT1A1 gene polymorphism test, though a few practical steps will help the process go smoothly.
Do You Need to Fast?
No. Fasting is not required for this test. You can eat and drink as normal before your sample is collected.
Practical Tips Before Your Test
Keep the following in mind before your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Tell your doctor if you have had a recent blood transfusion, as donor DNA may be present in your sample for up to six weeks after the transfusion.
- Inform your doctor if you have had a liver transplant or an allogeneic bone marrow or stem cell transplant, as this may affect your results.
- Wear a loose-fitting top or shirt for easy access to your arm.
- Stay well-hydrated before the visit, as this makes the blood draw easier.
Step-by-Step Procedure
- A trained phlebotomist will check your details and confirm your clinical history.
- A small area on your arm will be cleaned with an antiseptic wipe.
- A small blood sample (2 ml) will be drawn from a vein using a fine needle into a lavender-topped EDTA tube.
- The sample is labelled with your details and stored at 2 to 8°C for safe transport to the laboratory.
- In the laboratory, DNA is extracted from your blood and the UGT1A1 gene is analysed using Sanger Sequencing.
- Results are reviewed by a specialist, and a report is prepared and delivered via email or WhatsApp.
Factors That Can Affect Accuracy
The following factors may affect the accuracy of your result:
- Recent blood transfusion (donor DNA may be present for up to six weeks)
- History of allogeneic stem cell or bone marrow transplant
- Previous liver transplant
- Poor sample quality (e.g., haemolysis, meaning breakdown of red blood cells in the sample)
- Insufficient sample volume
Understanding Your UGT1A1 Gene Polymorphism Results
Your results will show which UGT1A1 genotype you carry. This indicates how actively your body metabolises bilirubin and certain drugs. Always review your results with your doctor, who will consider your full medical history before drawing any conclusions.
| Genotype | TA Repeats | Enzyme Activity | What It May Mean |
|---|---|---|---|
| *1/*1 (6/6) | Homozygous 6 TA | Normal | Standard bilirubin and drug metabolism |
| *1/*28 (6/7) | Heterozygous | Intermediate | Mildly increased risk of drug side effects |
| *28/*28 (7/7) | Homozygous 7 TA | Reduced | Higher risk of toxicity; linked to Gilbert syndrome |
| *36 (TA5) | 5 TA repeats | Increased | Higher metabolic activity |
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Results may need to be interpreted with extra care in certain situations:
- After a liver transplant: The test may not accurately reflect your UGT1A1 status, as liver or kidney dysfunction can independently affect how irinotecan is processed.
- After a bone marrow or stem cell transplant: Donor DNA in the blood sample may influence the result. Your doctor will advise on the right time to retest.
- Other contributing factors: Genetic and non-genetic factors beyond UGT1A1 variants may also contribute to irinotecan-related side effects.
How to Maintain Healthy Levels
Since this is a genetic test, the result itself cannot be changed. However, the following general steps support overall well-being:
- If Gilbert syndrome is identified, avoid very long periods of fasting, as this may trigger mild jaundice episodes.
- Always inform all your healthcare providers of your UGT1A1 genotype, so they can account for it when prescribing medications.
- Keep a regular eating schedule and stay well-hydrated day to day.
Lupin Diagnostics UGT1A1 Gene Polymorphism Price and Home Collection
The UGT1A1 gene polymorphism test price starts at ₹7,200 at Lupin Diagnostics, with home sample collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 7200 |
| CHENNAI | 7200 |
| HYDERABAD | 7200 |
| KOLKATA | 7200 |
| NAVI MUMBAI | 7200 |
| PUNE | 7200 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Home collection for the UGT1A1 gene polymorphism test is available across cities. A certified phlebotomist will visit your location at the scheduled time to collect the blood sample. All samples are processed in NABL-accredited laboratories, and your digital report is delivered securely via email or WhatsApp.
Frequently Asked Questions
The UGT1A1 gene polymorphism test serves two main purposes. It helps diagnose Gilbert syndrome, a common inherited condition that causes mild, intermittent yellowing of the eyes and skin. It also assesses whether a patient is at higher risk of severe side effects from certain drugs, especially the chemotherapy drug irinotecan.
No fasting is needed. You can eat and drink normally before your sample is collected. However, you must bring a detailed clinical history to your appointment, as this is required for the test.
At Lupin Diagnostics, the report is delivered within 15 days. The extended turnaround time is due to the specialised Sanger Sequencing method used to analyse the gene.
Irinotecan is broken down in the body by the UGT1A1 enzyme. Patients with reduced enzyme activity, particularly those with the *28/*28 genotype, may process the drug more slowly, increasing the risk of serious side effects such as severe diarrhoea and very low white blood cell counts. Knowing the genotype allows doctors to adjust the dose safely before treatment begins.
Gilbert syndrome is an inherited condition in which the UGT1A1 enzyme functions at reduced capacity, causing mild, fluctuating increases in bilirubin. It is generally benign, and many people are unaware they have it. The most common genetic cause in populations outside East Asia is the *28/*28 genotype, which is identified directly by the UGT1A1 gene polymorphism test.
This is a one-time genetic test. Your genetic makeup does not change during your lifetime, so once your UGT1A1 genotype is determined, the result remains valid and does not need to be repeated.
Yes. Home sample collection is available for this test. A trained phlebotomist will visit your location to draw a small blood sample from your arm. The sample is then transported to the Lupin Diagnostics laboratory for analysis, and your report is sent to you digitally once ready.
UGT1A1 Gene Polymorphism: Booking, Price, and Results
