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BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test

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BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test

Short Name: BCR-ABL1 IRMA

Also known as: IRMA, BCR-ABL1 Mutation Analysis, Kinase Domain Mutation Test

BCR-ABL1 Kinase Domain Mutation Analysis [IRMA] Test test available at DNA Labs India for ₹11,250. Uses Sanger Sequencing on Bone marrow / Peripheral blood samples. Results in Reports are typically available within 7-8 days after the sample is received by the laboratory.. Free home collection in 300+ cities across India.

Molecular🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of BCR-ABL1 Kinase Domain Mutation Analysis is to identify mutations in the kinase domain of the BCR-ABL1 gene that confer resistance to tyrosine kinase inhibitors (TKIs). This information is essential for guiding treatment decisions in patients with CML or Philadelphia-positive ALL who exhibit suboptimal response or relapse. By pinpointing specific mutations, clinicians can choose the most effective TKI or consider alternative therapies such as ponatinib or allogeneic stem cell transplantation. Additionally, the test helps in monitoring disease progression and predicting prognosis. It is also used in research settings to understand resistance mechanisms. Overall, IRMA plays a pivotal role in personalized oncology, ensuring that patients receive the most appropriate and timely interventions.

Test Code
6044
CPT Code
81479
ICD Code
C92.1
Price
₹11,250
Sample Type
Bone marrow / Peripheral blood
Result Time
Reports are typically available within 7-8 days after the sample is received by the laboratory.
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

No special preparation is required. Inform your doctor about all medications you are taking, especially TKIs. A doctor's prescription is mandatory for this test.

Method: Venipuncture or bone marrow aspiration

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm, or a bone marrow aspiration may be performed by a specialist. The procedure is quick and generally well-tolerated.

Step 3

Report Delivery

You can resume normal activities immediately. If bone marrow aspiration was performed, you may experience mild soreness at the site, which should resolve within a few days.

Timeline: Reports are typically available within 7-8 days after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. However, it is important to inform your doctor about all medications you are taking, especially TKIs, as they may affect the test results.
2
During the Test:A blood sample will be collected from a vein in your arm. If bone marrow aspiration is required, it will be performed by a specialist under local anesthesia. The procedure is usually quick and causes minimal discomfort.
3
After the Test:You can resume normal activities immediately. If you had a bone marrow aspiration, you may experience mild soreness at the site, which should resolve within a few days. Your doctor will discuss the results with you once available.

About This Test

Who Should Get This Test

The primary purpose of BCR-ABL1 Kinase Domain Mutation Analysis is to identify mutations in the kinase domain of the BCR-ABL1 gene that confer resistance to tyrosine kinase inhibitors (TKIs). This information is essential for guiding treatment decisions in patients with CML or Philadelphia-positive ALL who exhibit suboptimal response or relapse. By pinpointing specific mutations, clinicians can choose the most effective TKI or consider alternative therapies such as ponatinib or allogeneic stem cell transplantation. Additionally, the test helps in monitoring disease progression and predicting prognosis. It is also used in research settings to understand resistance mechanisms. Overall, IRMA plays a pivotal role in personalized oncology, ensuring that patients receive the most appropriate and timely interventions.

How to Prepare

  • Use EDTA vacutainer for blood sample
  • Transport sample immediately to the laboratory at cool pack (2-8°C)
  • Do not freeze the sample
  • Label the sample with patient name, date, and time of collection

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"BCR-ABL1 kinase domain mutations are a common cause of resistance to tyrosine kinase inhibitors (TKIs) in CML. Early detection allows for timely therapy adjustment, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBone marrow / Peripheral blood
Sample Volume2 ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture or bone marrow aspiration

Sample Stability

Whole blood: 24 hours at 2-8°C
Bone marrow: 24 hours at 2-8°C
Extracted DNA: 1 week at -20°C
Sample Rejection Criteria:
  • Clotted or hemolyzed sample
  • Incorrect container (e.g., heparin tube)
  • Sample not transported within 24 hours
  • Insufficient sample volume

Understanding Your Results

The interpretation of BCR-ABL1 kinase domain mutation analysis is based on the presence or absence of specific mutations that are known to confer resistance to TKIs. The report will list any detected mutations and their clinical significance.
📊

No resistance mutations found; current TKI therapy is likely effective. Continue monitoring.

📊

Resistance to imatinib, dasatinib, and nilotinib; consider ponatinib or alternative therapy.

📊

Resistance to imatinib and nilotinib; dasatinib may be effective.

📊

Resistance to dasatinib; imatinib or nilotinib may be effective.

📊

Clinical significance varies; consult oncologist for personalized treatment.

⚠️ When to Consult a Doctor:

Consult your oncologist if you experience symptoms such as persistent fatigue, unexplained weight loss, fever, easy bruising, or abdominal discomfort, especially if you are on TKI therapy. Also, if your BCR-ABL1 transcript levels are rising or if you have signs of disease progression, discuss the need for this test.

Limitations

  • Sanger sequencing may not detect low-level mutations (<20% allele frequency)
  • Only mutations in the kinase domain are detected; mutations outside this region are not covered
  • Test does not quantify BCR-ABL1 transcript levels; separate quantitative PCR is needed for monitoring
  • Results should be interpreted in conjunction with clinical and hematological findings

Risks & Considerations

  • Minimal risk of bleeding or infection at the blood draw site
  • Bone marrow aspiration carries a small risk of bleeding, infection, or discomfort
  • No radiation exposure or other significant risks

Interfering Factors

  • Inadequate sample volume or poor quality DNA
  • Hemolysis or clotting of blood sample
  • Delay in sample transport leading to DNA degradation
  • Presence of maternal cells in bone marrow aspirate (rare)
  • Prior allogeneic stem cell transplant may cause mixed chimerism

Compare With Similar Tests

TestBCR-ABL1 Kinase Domain Mutation Analysis [IRMA]BCR-ABL1 Quantitative PCRBCR-ABL1 Qualitative PCRCytogenetic Analysis (Karyotype)FISH (Fluorescence In Situ Hybridization)
ComparisonBCR-ABL1 Kinase Domain Mutation Analysis [IRMA]

Frequently Asked Questions

What is BCR-ABL1 Kinase Domain Mutation Analysis [IRMA]?
It is a molecular test that detects mutations in the kinase domain of the BCR-ABL1 gene, which can cause resistance to tyrosine kinase inhibitor therapy in CML and ALL.
What is the cost of the test?
The cost is Rs 11250, which includes home sample collection and online report.
What sample is required?
Bone marrow or peripheral blood (2 ml in EDTA vacutainer).
Is fasting required?
No, fasting is not required for this test.
How long does it take to get results?
Reports are available within 7-8 days.
What is the method used?
Sanger sequencing.
Who should get this test?
Patients with CML or Philadelphia-positive ALL who show resistance or suboptimal response to TKI therapy.
Can this test be done without a doctor's prescription?
No, a doctor's prescription is required.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across major cities in India.
What does a positive result mean?
A positive result indicates the presence of a mutation that may confer resistance to certain TKIs, guiding alternative treatment options.
Are there any risks associated with the test?
The test is safe with minimal risks such as slight bleeding or bruising at the collection site.
Is the test covered by insurance?
Coverage depends on your insurance policy; please check with your provider.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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