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BCR ABL1 Mutation Analysis Test
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BCR ABL1 Mutation Analysis Test Overview
BCR-ABL1 Mutation Analysis is a diagnostic test used to detect mutations in the BCR-ABL1 fusion gene in Chronic Myeloid Leukemia (CML) patients. It serves as a crucial therapy resistance marker, as specific mutations in the BCR-ABL1 kinase domain can lead to resistance to tyrosine kinase inhibitors (TKIs), the mainstay of CML treatment. By identifying these mutations, the test helps guide treatment decisions by allowing for alternative therapy selection or dose adjustments to overcome drug resistance. Regular monitoring of BCR-ABL1 mutations during treatment enables early detection of resistance and timely intervention, optimizing treatment outcomes in CML patients.
The BCR-ABL1 Mutation Analysis Test detects mutations in the BCR-ABL1 fusion gene, particularly within the ABL1 kinase domain, which is crucial for patients with chronic myeloid leukaemia (CML) and Philadelphia-positive acute lymphoblastic leukaemia (Ph+ ALL). This test helps identify mutations that may cause resistance to tyrosine kinase inhibitors (TKIs), commonly used in treatment. The BCR-ABL1 fusion gene results from a chromosomal translocation between chromosomes 9 and 22, forming the Philadelphia chromosome, which drives leukaemia. By identifying these mutations, the test guides personalised treatment strategies, optimising patient outcomes and improving management of these leukaemias.
Reasons for Undergoing the BCR ABL1 Mutation Analysis Test
There are several key reasons why your doctor may recommend the BCR ABL1 Mutation Analysis Test:
- To identify primary or secondary resistance to TKIs, which can guide treatment adjustments and optimise therapy.
- To monitor patients who show signs of losing haematologic response, complete cytogenetic response (CCyR), or major molecular response (MMR) to their current treatment.
- To detect disease progression to accelerated or blast phases of CML, which may require more aggressive treatment strategies.
- To tailor the therapeutic approach by identifying specific mutations that may affect the efficacy of different TKIs, enabling the selection of the most appropriate medication for each patient.
List of Parameters Considered During the BCR ABL1 Mutation Analysis Test
The BCR ABL1 Mutation Analysis Test focuses on specific parameters to assess the presence of mutations and monitor treatment response:
- Mutations in the ABL1 Kinase Domain: The test involves sequencing the entire ABL1 kinase domain to detect clinically significant mutations, such as G250E, Y253H, E255K/V, V299L, T315I/A, F317L/V/I/C, A337T, F359V/I/C, and P465S. These mutations are associated with resistance to various TKIs and guide the selection of appropriate therapeutic interventions.
- Transcript Levels: Quantitative testing measures the levels of BCR-ABL1 transcripts, which serve as an indicator of the effectiveness of the current treatment regimen and the presence of minimal residual disease. Monitoring transcript levels helps assess the depth of molecular response and detect early signs of relapse.
BCR ABL1 Mutation Analysis Test Preparation
Preparing for the BCR ABL1 Mutation Analysis Test involves the following steps:
- Sample Collection: The test requires a sample of peripheral blood or bone marrow. For blood samples, a volume of 5–10 mL is typically collected in an EDTA tube. Bone marrow samples are collected in specific tube types, such as green Na Hep or purple EDTA tubes, as per the laboratory's guidelines.
- Sample Handling: To ensure the integrity of the sample, it must be received by the testing laboratory within 24-48 hours after collection, depending on the specific test type (qualitative or quantitative). Proper handling and timely transport are essential for accurate results.
- No Fasting Required: Unlike some other blood tests, there is no need for fasting before the BCR ABL1 Mutation Analysis Test.
BCR ABL1 Mutation Analysis Test Results & Interpretation
The results of the BCR ABL1 Mutation Analysis Test are interpreted in the following manner:
- Presence of Mutations: If mutations are detected in the ABL1 kinase domain, it indicates resistance to the current TKI therapy. The specific mutation identified guides the selection of alternative TKIs or treatment strategies to overcome resistance.
- Transcript Levels: Quantitative results provide information on the level of BCR-ABL1 transcripts. An increase in transcript levels may suggest a loss of response to the current therapy and the need for treatment modification. Conversely, a decrease in transcript levels indicates a favourable response to treatment.
Home Collection for BCR ABL1 Mutation Analysis Test Near You
Metropolis Healthcare offers a convenient home sample collection service for the BCR ABL1 Mutation Analysis Test, ensuring comfort and safety for patients. A trained phlebotomist will visit your home to collect the required blood samples, maintaining the highest standards of sample handling and testing accuracy. This service eliminates the need for patients to travel to a clinic or hospital, making it easier for them to undergo regular monitoring and follow-up testing. With timely and reliable results, Metropolis Healthcare's home collection service reflects their commitment to making healthcare accessible and providing quality diagnostic solutions conveniently at home.
BCR ABL1 Mutation Analysis Test Price
Metropolis Healthcare is a leading diagnostics centre and pathology lab in India equipped with the latest state-of-the-art technologies that provides the BCR ABL1 Mutation Analysis Test with a clear pricing structure.
The BCR ABL1 Mutation Analysis Test Price in Mumbai is ₹ 10,710 .
We are committed to deliver accurate and quality results from the best labs in India with complete transparency regarding test cost and turnaround time. No matter where you are, we strive to offer patients high-quality service that is affordable and accessible.
Frequently Asked Questions
BCR ABL1 Mutation Analysis detects genetic mutations in the BCR ABL1 fusion gene, specifically for CML.
• To identify genetic mutations in the BCR ABL1 gene for patients with CML • To guide treatment decisions by determining therapy resistance markers • To monitor treatment effectiveness and assess the need for changes in therapy • To provide valuable information for personalized treatment plans
BCR ABL1 Mutation Analysis is recommended for • patients diagnosed with CML, • patients with suspected therapy resistance or treatment failure, • patients whose treatment response needs to be monitored, and • patients requiring personalised treatment plans based on genetic information.
The presence of BCR ABL1 gene mutations may indicate therapy resistance in CML. Abnormal results help doctors identify appropriate treatment options.
During this test, a sample of 5–10 ml of EDTA whole blood will be collected. The sample is sent for analysis using Sanger Sequencing.
• Clinical diagnosis, test prescription, and TRF are mandatory. • Follow any instructions provided by your doctor regarding medication or dietary restrictions. • Inform your doctor if you have any specific requirements.
• Complete Blood Count (CBC): To assess the overall blood cell counts and morphology • BCR ABL1 Quantitative PCR: To monitor treatment response and measure disease burden • Bone Marrow Aspiration and Biopsy: To evaluate the extent of bone marrow involvement
Genetic Testing for Therapy Resistance in Chronic Myeloid Leukaemia
Chronic myeloid leukaemia is a type of cancer that affects the white blood cells. It is characterised by the overproduction of abnormal white blood cells in the bone marrow. CML is often associated with a genetic abnormality known as the Philadelphia chromosome.
The BCR ABL1 Mutation Analysis Test is a genetic test that detects mutations in the BCR-ABL1 fusion gene, specifically in the ABL1 kinase domain. It helps identify resistance to tyrosine kinase inhibitors (TKIs) in patients with certain types of leukaemia.
Yes, some labs, including Metropolis, offer home sample collection for the BCR-ABL1 Mutation Analysis Test in which a trained phlebotomist will visit your home to collect the required blood samples, maintaining the highest standards of sample handling and testing accuracy.
Normal levels in the BCR ABL1 Mutation Analysis Test indicate no detectable mutations and BCR-ABL1 transcript levels below a specific threshold, such as <0.1% IS for CML patients on TKIs.
The BCR ABL1 Mutation Analysis Test is used to identify mutations that confer resistance to TKIs, monitor disease response, and guide treatment adjustments in patients with CML and Ph+ ALL.
The frequency of the BCR ABL1 Mutation Analysis Test depends on your clinical response and treatment protocol. Typically, it is performed every 3-6 months or as clinically indicated by your doctor.
You can get the BCR ABL1 Mutation Analysis Test done at any time, following your doctor's recommended schedule.
No, fasting is not required for the BCR ABL1 Mutation Analysis Test.
Ensure that your sample is handled and transported correctly to the laboratory.
The BCR ABL1 Mutation Analysis Test includes sequencing of the ABL1 kinase domain and quantification of BCR-ABL1 transcripts.
The BCR ABL1 Mutation Analysis Test should be done when there are signs of resistance to TKIs, loss of haematologic or cytogenetic response, or disease progression. It is also part of regular monitoring for patients with CML or Ph+ ALL, as recommended by your doctor.
Sample collection for the BCR ABL1 Mutation Analysis Test takes a few minutes, but laboratory processing takes several days.
Reports for the BCR ABL1 Mutation Analysis Test are typically available within 10 days after the laboratory receives your sample based on the day/time when the sample was collected and processed. The turnaround time may vary depending on the complexity of the analysis required.
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