BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test: Booking, Price, and Results
About BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | IRMA, Imatinib Resistance Mutation Analysis, ABL1 Kinase Domain Mutation Analysis, BCR-ABL1 KD Mutation Analysis |
| Sample Type | Peripheral blood (EDTA tube) or bone marrow (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 20 days |
| Recommended For | Adults and children with diagnosed CML or Ph+ ALL receiving TKI therapy; male and female |
| Price | Starting at ₹10,200 |
What Is a BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test?
The BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] test is a specialised molecular test used to detect genetic changes in the BCR-ABL1 fusion gene. It is ordered for patients with chronic myelogenous leukaemia (CML) or Philadelphia chromosome-positive acute lymphoblastic leukaemia (Ph+ ALL) who are on targeted drug therapy. The test helps identify whether the cancer has developed resistance to tyrosine kinase inhibitors (TKIs), which are targeted medicines used to treat these blood cancers. It is also known as the BCR-ABL1 kinase domain mutation analysis or IRMA, and the sample used is either peripheral blood or bone marrow, both collected in an EDTA tube.
What Does a BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test Measure?
This test examines the kinase domain of the BCR-ABL1 fusion gene, which is the part of the gene responsible for the enzyme activity that drives cancer cell growth. The following elements are analysed:
| Component | What It Looks For |
|---|---|
| BCR-ABL1 Kinase Domain Mutations | Point mutations (single-letter changes in the gene code) that cause resistance to TKI drugs |
| Specific Resistance Mutations | Named mutations such as G250E, Y253H, E255K/V, V299L, T315I/A, F317L/V/I/C, A337T, F359V/I/C, and P465S |
| Mutation Pattern | Whether single, multiple (polyclonal), or compound mutations (two or more changes on the same gene molecule) are present |
Around 40 to 50% of all TKI resistance cases are linked to acquired mutations in this kinase domain.
Why Is a BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test Done?
This test is not a routine screening tool. It is ordered when a doctor suspects that a patient's current TKI treatment is no longer working, or when monitoring confirms rising BCR-ABL1 levels.
Common Symptoms That May Require This Test
The following symptoms, in patients already diagnosed with CML or Ph+ ALL, may prompt a doctor to order this test:
- Persistent fatigue or excessive tiredness
- Unexplained fever
- Unintended weight loss
- Abdominal fullness caused by an enlarged spleen
- Loss of appetite
- Night sweats
- Bone pain or generalised weakness
Conditions This Test Can Help Detect
This test is specifically used to identify the following:
- TKI resistance in patients with CML or Ph+ ALL, caused by acquired mutations in the BCR-ABL1 kinase domain
- The T315I mutation, which makes the cancer resistant to imatinib, dasatinib, nilotinib, and bosutinib
- Polyclonal mutations, where more than one resistant clone is present
- Compound mutations, where two or more changes occur within the same BCR-ABL1 gene molecule
BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test for Chronic Disease Monitoring
Once CML or Ph+ ALL is diagnosed, BCR-ABL1 levels are typically monitored every 3 months. If those levels begin to rise during TKI therapy, the BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] is performed to identify the specific mutation causing resistance. This guides the doctor in deciding whether to increase the current drug dose or switch to a different TKI. Monitoring is usually carried out at 3, 6, and 12 months after starting therapy, and at regular intervals thereafter.
How to Prepare and What to Expect
No special preparation is needed for this test, but providing the right information beforehand ensures accurate and useful results.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink as normal on the day of sample collection.
Practical Tips Before Your Test
Being well prepared helps the laboratory process your sample correctly. Keep the following in mind:
- Bring a detailed clinical history record, including your current diagnosis, symptoms, previous test results, and treatment history, as this is required for the test
- Carry your latest BCR-ABL1 Quantitative PCR report if one is available
- Inform your doctor and the collection team about all current medications, especially which TKIs you are taking
- Ensure the sample reaches the laboratory within 24 to 48 hours of collection, as timely transport is essential
Step-by-Step Procedure
This test can use either a peripheral blood sample or a bone marrow sample. The collection method differs depending on which sample your doctor has requested.
Peripheral Blood Collection:
- A trained phlebotomist will clean the skin on your inner arm and locate a suitable vein.
- A small needle is used to draw approximately 3 ml of blood into an EDTA (lavender-top) tube.
- The site is covered with a small dressing, and any mild discomfort passes quickly.
Bone Marrow Collection:
- You will be positioned on a table, usually lying face down or on your side.
- The skin over the back of the hip bone is cleaned, and an injection is given to numb the area. You may also receive medication to help you feel relaxed.
- A specialised needle is used to collect a small amount of bone marrow, also placed into an EDTA tube.
- The area is dressed, and you will be observed briefly before leaving.
After Collection (Both Sample Types):
- The sample is stored at 2 to 8°C and dispatched to the laboratory promptly.
- The sample is analysed using Next Generation Sequencing (NGS) to detect mutations in the BCR-ABL1 kinase domain. Results are delivered within 20 days.
Factors That Can Affect Accuracy
The following factors may influence the reliability of your results:
- Low BCR-ABL1 transcript levels in the sample, which can reduce the ability to detect mutations present at low frequency
- Delayed sample transport or incorrect storage temperature
- Poor sample quality or inadequate sample volume
- Some mutations may persist at very low, undetectable levels even after a treatment change and can re-emerge later
Understanding Your BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test Results
Results from this test are reported qualitatively. Your doctor will review the findings alongside your full treatment history and BCR-ABL1 monitoring data. The table below shows the standard normal result.
| Parameter | Expected Result | What It Means |
|---|---|---|
| BCR-ABL1 Kinase Domain Mutation | No mutation detected | No resistance-causing mutations identified in the sample |
A "mutation not detected" result suggests that acquired kinase domain mutations are not responsible for any observed treatment response issues. A "mutation detected" result identifies the specific change(s) present, which helps your doctor decide on the most appropriate next step in treatment.
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.
How to Maintain Healthy Levels
The following general tips support better treatment outcomes for patients on TKI therapy:
- Take your TKI medications consistently and exactly as directed by your haematologist or oncologist
- Attend all scheduled follow-up appointments so that BCR-ABL1 transcript levels can be tracked regularly
- Report any new or worsening symptoms, such as fatigue, bone pain, or unexplained fever, to your doctor without delay
Lupin Diagnostics BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test Price
The BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] test is priced starting at ₹10,200 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| Mumbai | 10200 |
| Pune | 10200 |
| Bangalore | 10200 |
| Chennai | 10200 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking your BCR-ABL1 kinase domain mutation analysis [IRMA] test online is straightforward:
- Select the 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 the stipulated turnaround time.
Frequently Asked Questions
The BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] test is used to detect genetic mutations in the BCR-ABL1 fusion gene that cause resistance to TKI drugs. It is ordered for patients with CML or Ph+ ALL whose treatment response is declining or whose BCR-ABL1 levels are rising.
This test is recommended for patients already diagnosed with CML or Ph+ ALL who are on TKI therapy. A doctor may order it when monitoring tests show rising BCR-ABL1 transcript levels, suggesting the current treatment may not be working as expected.
A peripheral blood draw involves a brief, mild sting when the needle is inserted. A bone marrow sample collection is more involved and is performed under local anaesthesia to numb the area, so discomfort is minimised. The healthcare team will guide you through what to expect.
It means that one or more genetic changes have been found in the BCR-ABL1 kinase domain. These changes are associated with resistance to specific TKI drugs. Your doctor will use the identified mutation type to decide whether to adjust your dose or switch to a different treatment.
The T315I mutation is a specific change in the BCR-ABL1 gene that causes resistance to several commonly used TKIs, including imatinib, dasatinib, nilotinib, and bosutinib. Identifying this mutation is important because it means only certain other medicines remain effective.
At Lupin Diagnostics, results are delivered within 20 days. This is because the test is performed using NGS, which is a detailed sequencing method that takes more time but provides a thorough and highly sensitive analysis.
Yes. You must bring a detailed clinical history report, including your diagnosis, any previous BCR-ABL1 test reports, and a list of your current medications. This information is required for the laboratory to process and interpret your results correctly.
BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test: Booking, Price, and Results
