Irinotecan Toxicity Assessment (UGT1A1 Genotyping)/Gilbert Syndrome Test
About Irinotecan Toxicity Assessment (UGT1A1 Genotyping)/Gilbert Syndrome Test
| Field | Value |
|---|---|
| Also Known As | UGT1A1 Genotyping, Irinotecan Pharmacogenetic Test, Gilbert Syndrome Genetic Test, UGT1A1*28 Testing, UDP-Glucuronosyltransferase 1A1 Test |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 12 days |
| Recommended For | Males and females of all ages, particularly cancer patients being considered for irinotecan chemotherapy and individuals with suspected Gilbert syndrome |
| Price | Starting at ₹9,000 |
What Is an Irinotecan Toxicity Assessment (UGT1A1 Genotyping)/Gilbert Syndrome Test?
The Irinotecan Toxicity Assessment is a genetic test that analyses the UGT1A1 gene in your DNA. This gene controls an enzyme in the liver that processes certain drugs and bilirubin (a yellow pigment produced when red blood cells break down). The test is used to assess the risk of serious side effects from irinotecan, a chemotherapy drug, and to confirm a diagnosis of Gilbert syndrome. It is also known as UGT1A1 Genotyping or the Gilbert Syndrome Genetic Test. A peripheral blood sample collected in an EDTA tube is used for this test.
What Does an Irinotecan Toxicity Assessment (UGT1A1 Genotyping)/Gilbert Syndrome Test Measure?
This test identifies specific variations (alleles) in the UGT1A1 gene that affect how efficiently the liver enzyme works. The following alleles are analysed:
| Allele | Also Known As | What It Means |
|---|---|---|
| UGT1A1*1 | TA6 | Normal allele; associated with standard enzyme activity |
| UGT1A1*28 | TA7 | Reduced enzyme activity; linked to Gilbert syndrome and higher drug toxicity risk |
| UGT1A1*6 | G71R | Reduced activity; found more commonly in Asian populations |
| UGT1A1*36 | TA5 | Rare allele; mainly seen in African ethnic groups |
| UGT1A1*37 | TA8 | Rare allele; mainly seen in African ethnic groups |
Why Is an Irinotecan Toxicity Assessment (UGT1A1 Genotyping)/Gilbert Syndrome Test Done?
This UGT1A1 Genotyping test is ordered for two main reasons: to guide safe chemotherapy dosing and to diagnose a genetic liver condition. Below are the specific circumstances in which a doctor may recommend it.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to order this test:
- Yellowing of the skin or eyes (jaundice)
- Unusual fatigue or tiredness
- Dark-coloured urine
- Clay-coloured or pale stools
- Abdominal discomfort or nausea
- Persistent diarrhoea, especially during or after chemotherapy
- Difficulty concentrating
Conditions This Test Can Help Detect
This test can help identify the following conditions:
- Gilbert syndrome: A common inherited condition causing mild, recurring episodes of jaundice due to reduced UGT1A1 enzyme activity, without underlying liver disease
- Irinotecan toxicity risk: Identifying cancer patients at high risk of severe side effects such as neutropenia (dangerously low white blood cell count) and severe diarrhoea from irinotecan chemotherapy
- Sensitivity to other drugs: Certain medications, including atazanavir, nilotinib, pazopanib, and belinostat, are also processed by the UGT1A1 enzyme, and gene variants can affect how the body handles these drugs
How to Prepare and What to Expect
The Irinotecan Pharmacogenetic Test requires very little preparation. Here is what you need to know before your appointment.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink normally before sample collection.
Practical Tips Before Your Test
Please keep the following points in mind before attending your appointment:
- Bring a detailed clinical history including your symptoms, previous test results, and relevant family history, as this is required for the test
- Inform your doctor if you have had a haematopoietic stem cell transplant (bone marrow transplant from a donor), as this can interfere with test results
- Inform your doctor if you have had a liver transplant, as this may also affect accuracy
- Stay well hydrated before the test to make blood collection easier
- There are no dietary restrictions, but disclose all medications you are currently taking to your doctor
Step-by-Step Procedure
The sample collection process for this UGT1A1 Genotyping test involves the following steps:
- A trained phlebotomist (blood collection professional) will confirm your identity and review your clinical history documentation.
- The skin over a suitable vein in your arm is cleaned with an antiseptic swab.
- A tourniquet is applied briefly to make the vein more visible, and a small 2 ml blood sample is drawn into a lavender-top EDTA tube.
- The tube is gently inverted several times to mix the blood with the preservative.
- The sample is stored at refrigerated temperature (2 to 8°C) and sent to the laboratory without splitting into smaller portions.
- At the laboratory, DNA is extracted from the blood and analysed using Sanger sequencing to identify your UGT1A1 gene variants.
Factors That Can Affect Accuracy
The following factors may affect the reliability of your results:
- Recent blood transfusions (non-leukoreduced), the sample may contain donor DNA rather than your own
- Prior allogeneic haematopoietic stem cell transplantation (bone marrow transplant from a donor)
- Prior liver transplant, results may reflect the donor's genotype
- Rare gene sequence variations not covered by standard genotyping assays
Understanding Your Irinotecan Toxicity Assessment (UGT1A1 Genotyping)/Gilbert Syndrome Test Results
Results from this test are reported as a genotype, a combination of two alleles inherited from each parent. Your doctor will explain what your specific result means for your health or treatment plan. The table below shows common genotypes and their clinical meaning.
| Genotype | Enzyme Activity | Irinotecan Toxicity Risk |
|---|---|---|
| *1/*1 (TA6/TA6) | Normal | Low (approximately 17% diarrhoea, 15% neutropenia) |
| *1/*28 (TA6/TA7) | Intermediate; carrier of Gilbert syndrome | Moderate (approximately 33% diarrhoea, 27% neutropenia) |
| *28/*28 (TA7/TA7) | Reduced; consistent with Gilbert syndrome | High (approximately 70% diarrhoea, 40% neutropenia) |
| *6/*6 | Reduced; more common in Asian populations | High |
| *6/*28 (compound heterozygous) | Reduced | High |
Disclaimer: 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
If you have Gilbert syndrome, certain situations can temporarily raise your bilirubin levels further: these include dehydration, prolonged fasting or skipping meals, illness or infections, menstruation, and excessive physical exertion. Informing your doctor about these circumstances helps with accurate interpretation.
Prior organ transplants (liver or bone marrow) may produce results that reflect the donor's genotype rather than your own.
How to Maintain Healthy Levels
The following general wellness tips are relevant if you have been diagnosed with Gilbert syndrome:
- Keep yourself well hydrated and avoid going without food for long periods, as fasting can trigger episodes of jaundice
- Inform all treating doctors and pharmacists about your UGT1A1 status before starting any new medication, including chemotherapy
- Gilbert syndrome does not require treatment, but it is important to distinguish it from other conditions that cause raised bilirubin, which your doctor can do
Lupin Diagnostics Irinotecan Toxicity Assessment (UGT1A1 Genotyping)/Gilbert Syndrome Test Price and Home Collection
The Irinotecan Toxicity Assessment / Gilbert Syndrome test is available at Lupin Diagnostics starting at ₹9,000, with home sample collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 9000 |
| CHENNAI | 9000 |
| HYDERABAD | 9000 |
| KOLKATA | 9000 |
| NAVI MUMBAI | 9000 |
| PUNE | 9000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
You can book your Irinotecan Toxicity Assessment / Gilbert Syndrome test online by following these steps:
- 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
Irinotecan Toxicity Assessment / Gilbert Syndrome test home collection is available across cities through Lupin Diagnostics. Your blood sample is collected at home by a certified phlebotomist and processed in NABL-accredited laboratories. Your digital report is delivered to you via email or WhatsApp once ready.
Frequently Asked Questions
UGT1A1 Genotyping has two main uses: it helps oncologists decide on a safe starting dose of irinotecan chemotherapy for cancer patients, and it confirms a diagnosis of Gilbert syndrome in individuals with unexplained raised bilirubin levels. Knowing your genotype in advance can reduce the risk of serious drug side effects.
This test is recommended for cancer patients being considered for high-dose irinotecan therapy, individuals who have already experienced severe side effects from irinotecan, and anyone with a personal or family history of Gilbert syndrome or unexplained jaundice. Your doctor will advise whether it is appropriate for you.
Gilbert syndrome is a common, inherited condition in which the liver processes bilirubin less efficiently than normal due to reduced UGT1A1 enzyme activity. It typically causes mild, intermittent episodes of yellowing of the skin or eyes. There is no associated liver disease, and most people lead a normal life.
Gilbert syndrome is estimated to affect roughly 3 to 7% of people globally, though prevalence varies by ethnicity and may range as high as 20% in some populations. Many people with the condition are never formally diagnosed because symptoms are mild or absent.
Gilbert syndrome does not require treatment. Most people experience occasional mild jaundice that resolves on its own within a few days. The main importance of diagnosis is to distinguish it from other liver conditions and to be aware of any medications that may be affected by reduced UGT1A1 activity.
The Irinotecan Pharmacogenetic Test identifies gene variants that slow the breakdown of SN-38, the active form of irinotecan in the body. When SN-38 accumulates, it can cause serious toxicity such as severe diarrhoea and neutropenia. Knowing a patient's genotype beforehand allows doctors to adjust the chemotherapy dose and reduce this risk.
Results for the Irinotecan Toxicity Assessment are typically available within 12 days from the date of sample collection, given the detailed DNA sequencing analysis involved. Your report will be delivered digitally once ready.
Irinotecan Toxicity Assessment (UGT1A1 Genotyping)/Gilbert Syndrome Test
