NUDT15 Gene Mutation Analysis Test: Booking, Price, and Results
About NUDT15 Gene Mutation Analysis Test
| Field | Value |
|---|---|
| Also Known As | NUDT15 Genotyping, Nudix Hydrolase 15 Gene Test, NUDT15 Pharmacogenetic Test |
| Sample Type | Peripheral blood (EDTA/lavender-top tube) |
| Fasting Required | No fasting required |
| Report Time | 12 days |
| Recommended For | All genders and age groups; especially patients of Asian ancestry starting thiopurine medications |
| Price | Starting at ₹7,800 |
What Is a NUDT15 Gene Mutation Analysis Test?
The NUDT15 Gene Mutation Analysis test is a pharmacogenetic test that examines specific variants in the NUDT15 gene. This gene plays a key role in how the body processes a class of drugs called thiopurines.
Doctors order this test to understand whether a patient can safely receive standard doses of these medications or whether their genetic profile puts them at risk of serious side effects. Also known as the NUDT15 Genotyping test or the Nudix Hydrolase 15 Gene test, it is performed on a peripheral blood sample.
What Does a NUDT15 Gene Mutation Analysis Test Measure?
This test uses Sanger Sequencing to identify inherited variants in the NUDT15 gene. The NUDT15 enzyme is involved in the breakdown of thiopurine drugs in the body. Reduced enzyme activity due to gene variants can lead to a build-up of toxic drug metabolites. The test evaluates the following key components:
| Component | What It Tells Us |
|---|---|
| NUDT15 gene variants | Identifies changes in the NUDT15 gene that reduce enzyme function |
| Alleles tested | Evaluates variants associated with NUDT15*2, *3, *4, and *5 |
| NUDT15*3 variant (c.415C>T) | Most common loss-of-function variant; prevalent in East Asian, South Asian, Hispanic, and Native American populations |
| Predicted metaboliser status | Classifies how effectively the body is likely to break down thiopurine medications |
Why Is a NUDT15 Gene Mutation Analysis Test Done?
This test is ordered before starting or after a negative reaction to thiopurine medications such as azathioprine, mercaptopurine, or thioguanine. These drugs are used to treat a range of conditions, and understanding a patient's genetic profile helps doctors prescribe the right dose safely.
Common Symptoms That May Require This Test
A doctor may recommend the NUDT15 Gene Mutation Analysis test if a patient on or about to start thiopurine therapy experiences the following:
- Unexpected or excessive hair loss (alopecia)
- Low white blood cell count (leukopenia), increasing infection risk
- Nausea, vomiting, or abdominal pain after starting thiopurine medication
- General flu-like symptoms such as fatigue, fever, or muscle aches
- Bone marrow suppression detected through blood counts
- Skin or mucosal symptoms following thiopurine use
Conditions This Test Can Help Detect
The NUDT15 Pharmacogenetic test is relevant for patients being treated for the following conditions:
- Acute lymphoblastic leukemia and chronic myeloid leukemia (where thiopurines are used as chemotherapy)
- Inflammatory bowel disease (IBD), including Crohn's disease and ulcerative colitis
- Rheumatoid arthritis managed with immunosuppressive therapy
- Solid organ transplantation requiring long-term immunosuppression
- Risk of thiopurine-induced myelosuppression (bone marrow suppression)
How to Prepare and What to Expect
The NUDT15 Gene Mutation Analysis Test requires minimal preparation, but there are some important steps to follow before your visit to the collection centre.
Do You Need to Fast?
No fasting is required for this test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
Please keep the following points in mind before attending sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results, and your doctor's prescription.
- Provide consent for genetic testing before the sample is collected; this is a standard requirement for all genetic tests.
- If you have recently received a blood transfusion, inform the collection staff. Donor DNA in the sample can affect results. Waiting at least six weeks after a transfusion is generally recommended.
- If you have undergone an allogeneic hematopoietic stem cell transplant (a transplant using a donor's stem cells), discuss timing with your doctor before booking, as a pre-transplant sample may be needed.
- Wear clothing with easy access to your inner arm to make the blood draw straightforward.
Step-by-Step Procedure
The sample collection for this test is a simple blood draw. Here is what to expect:
- A trained phlebotomist (blood collection specialist) cleans the skin on your inner arm with an antiseptic swab
- A small amount of blood (2 ml) is drawn from a vein and collected into a lavender-top EDTA tube
- The tube is gently inverted several times to mix the blood with the preservative
- A small bandage or cotton swab is applied to the collection site
- The sample is labelled with your details and stored under refrigeration (2 to 8 degrees Celsius) for safe transport
- The sample is dispatched to the laboratory, where genetic analysis is performed using Sanger Sequencing
Factors That Can Affect Accuracy
- Recent blood transfusions (donor DNA may be present in the sample for up to six weeks)
- Prior allogeneic hematopoietic stem cell transplantation
- Improper sample storage or handling during transport
- Delayed processing beyond recommended storage timelines
- Poor sample quality or insufficient blood volume
Understanding Your NUDT15 Gene Mutation Analysis Test Results
This is a qualitative genetic test. Results are reported as a genotype (the pattern of gene variants detected) along with a predicted metaboliser status, which indicates how effectively the body is likely to break down thiopurine drugs. There are no numerical values. Your doctor will use these results to guide thiopurine dosing decisions.
| Genotype | Metaboliser Status | Interpretation |
|---|---|---|
| *1/*1 (Wild type) | Normal metaboliser | No NUDT15 variant alleles detected; standard thiopurine dosing is typically appropriate |
| *1/*3 | Intermediate metaboliser (likely) | One variant allele detected; increased risk of thiopurine-related bone marrow suppression |
| *3/*6 (Compound heterozygous) | Intermediate or possible intermediate | Two different variant alleles detected; increased toxicity risk |
| *3/*3 (Homozygous) | Poor metaboliser (likely) | Two copies of a variant allele detected; high risk of severe adverse reactions with standard dosing |
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
Certain medical histories can affect how results are interpreted:
- Patients who have received non-leukoreduced blood transfusions or allogeneic stem cell transplants may have donor DNA in their sample. This can cause the result to reflect the donor's genotype rather than the patient's own, leading to inaccurate findings.
- For patients who have had an allogeneic hematopoietic stem cell transplant, a blood sample collected before the transplant is recommended for accurate genotyping.
Best Practices After Receiving Your Results
Because this is a genetic test, results reflect inherited traits and cannot be changed through lifestyle. However, the following steps are relevant once you have your results:
- Share your genotype report with every treating doctor, as this information is relevant for any future prescriptions of thiopurine medications.
- Discuss your metaboliser status with your doctor before starting or adjusting any thiopurine-based therapy.
- Attend all follow-up blood tests recommended by your doctor to monitor blood counts and treatment response, even after genotype-guided dosing has been established.
Lupin Diagnostics NUDT15 Gene Mutation Analysis Test Price
The NUDT15 Gene Mutation Analysis test is priced starting at ₹7,800 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre for blood sample collection. The collected sample is then sent to the laboratory for genetic analysis using Sanger Sequencing.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 7800 |
| CHENNAI | 7800 |
| HYDERABAD | 7800 |
| KOLKATA | 7800 |
| NAVI MUMBAI | 7800 |
| PUNE | 7800 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the NUDT15 Gene Mutation Analysis Test on the Lupin Diagnostics website
- Choose your city and preferred centre location
- Visit the centre at your scheduled time for sample collection
- Receive your report via email or WhatsApp within 12 days of sample collection
Frequently Asked Questions
The NUDT15 Gene Mutation Analysis test is a genetic test that identifies variants in the NUDT15 gene, which controls how the body breaks down thiopurine drugs. Doctors use the results to determine the safest and most effective dose of medications such as azathioprine, mercaptopurine, and thioguanine for each individual patient.
This test is recommended for patients who are about to start thiopurine therapy, particularly those with leukemia, inflammatory bowel disease, rheumatoid arthritis, or those undergoing organ transplantation. It is also relevant for patients who have already experienced unexpected side effects such as hair loss or low blood counts after starting thiopurine medication.
Yes. NUDT15 gene variants that reduce enzyme activity are significantly more common in East Asian and South Asian populations. In a study, approximately 19.4% of patients showed NUDT15 variants in India, making this test a particularly useful screening tool for Indian patients before thiopurine therapy begins.
At Lupin Diagnostics, the report delivery time for the NUDT15 Gene Mutation Analysis Test is 12 days. This accounts for the time needed to perform Sanger Sequencing and interpret the genetic findings accurately.
No fasting is needed. You can eat and drink as usual before your appointment. Just remember to bring your clinical history and doctor's prescription when you visit the collection centre.
If one variant allele is detected, your doctor may recommend a reduced thiopurine dose along with closer blood count monitoring. If two variant alleles are detected (homozygous), thiopurine medications may need to be avoided entirely due to the high risk of severe bone marrow suppression. Your doctor will advise on the best course of action based on your full medical history.
No. This is a one-time genetic test. Your genetic makeup does not change over time, so results remain valid for your lifetime. However, your doctor will continue to monitor your blood counts and overall response to treatment to adjust thiopurine doses as needed over time.
NUDT15 Gene Mutation Analysis Test: Booking, Price, and Results
