BCR-ABL1 Test For Genetic Abnormality in Leukemia

The BCR-ABL1 test checks for a specific genetic abnormality in some forms of leukemia, helping diagnose and monitor treatment. It involves analyzing blood or bone marrow samples to detect the presence of this genetic marker.

BCR-ABL1 Test

Here are the basic details of the BCR-ABL1 Test.

Also Known As	BCR-ABL Oncogene Test, Philadelphia Chromosome
Type	Genetic Test
Purpose	Detect and monitor chronic myelogenous leukaemia (CML)
Sample Type	Blood sample or bone marrow aspiration/biopsy
Preparation	Typically, no special preparation is required
Fasting	Not applicable
Gender	All
Age Group	All
Normal Value	0-0.1%
Reporting Time	Within 24 hours
Cost	5,000-10,000 INR*

*BCR-ABL1 Test Price range may vary as per location, lab type, and procedure of lab test.

BCR-ABL1 Test Means

The BCR-ABL1 fusion gene encodes an abnormal protein, a tyrosine kinase, which drives the uncontrolled growth of leukemic cells.

Detects a specific genetic abnormality related to certain types of leukemia.
Confirms the diagnosis of chronic myelogenous leukemia (CML) and specific types of acute lymphoblastic leukemia (ALL).
Involves testing for the presence of the BCR-ABL1 gene sequence and Philadelphia chromosome.
Helps monitor treatment effectiveness and detect treatment resistance.
Utilizes different testing methods like cytogenetics, FISH, and genetic molecular testing to identify the abnormality.

BCR-ABL1 Test Purpose

The purpose of the BCR-ABL1 Test is to:

Diagnose specific types of leukemia, including chronic myelogenous leukemia (CML) and certain acute lymphoblastic leukemias (ALL).
Confirm the presence of the BCR-ABL1 gene sequence and Philadelphia chromosome.
Monitor the effectiveness of leukemia treatment.
Detect treatment resistance.
Aid in assessing disease progression and transformation.
Identify genetic mutations associated with therapy resistance.

BCR-ABL1 Test_ Price, Normal Range, Result, Purpose, Procedure Meaning and Interpretation - Drlogy Test

BCR-ABL1 Test Preparation

Here is the basic preparation for the BCR-ABL1 Test.

Before Test

Typically, no specific preparation is needed.
Inform your healthcare provider about any medications or medical conditions.
Follow any fasting instructions if provided.

During Test

Blood sample drawn from a vein or bone marrow aspiration and/or biopsy.

After Test

Resume normal activities.
Await test results for further guidance on diagnosis or treatment.
Discuss results and follow-up with your healthcare provider.

BCR-ABL1 Test Procedure

Here is the basic BCR-ABL1 Test Procedure.

Involves obtaining a blood sample from a vein or a bone marrow sample.
Blood sample is typically drawn from the arm using a needle.
For bone marrow sample, a needle is inserted into the bone to collect marrow.
Various testing methods used include cytogenetics, FISH, and genetic molecular testing.
Detects the presence of the BCR-ABL1 gene sequence and Philadelphia chromosome.
Results help diagnose and monitor specific types of leukemia and guide treatment.

BCR-ABL1 Test Result

A positive BCR-ABL1 test result confirms the diagnosis of CML (Chronic Myeloid Leukemia) or Ph-positive ALL (Acute Lymphoblastic Leukemia).
The quantity of BCR-ABL1 in the blood or bone marrow is monitored over time to assess treatment response.
A decrease indicates a response, while an increase may signal disease progression or resistance to therapy.

BCR-ABL1 Test Normal Range

Here is the normal range of the BCR-ABL1 Test

Test Name	Normal Range
BCR-ABL1 Test	0.0% - 0.1%

BCR-ABL1 Test Interpretation

Here is the Interpretation of the BCR-ABL1 Test.

Test Name	BCR-ABL1 Test Interpretation
0.0% - 0.1%	Within Normal Range
Above 0.1%	Elevated, May Indicate CML (Chronic Myeloid Leukemia)

BCR-ABL1 Test High Levels

Here are listing potential causes of high BCR-ABL1 test levels:

Potential Causes	Description
Chronic Myeloid Leukemia (CML)	BCR-ABL1 fusion gene is characteristic of CML, leading to elevated levels.
Acute Lymphoblastic Leukemia (ALL)	BCR-ABL1 can be found in a subset of ALL cases, causing increased levels.
Philadelphia Chromosome	A genetic translocation where BCR and ABL1 genes fuse, common in CML and some ALL cases.
Medication Resistance	Elevated BCR-ABL1 levels may indicate resistance to tyrosine kinase inhibitors used in CML treatment.
Disease Progression	Increased levels can signify the progression of CML or ALL.
Monitoring Treatment	Rising levels may indicate the need for treatment adjustment or intervention.

BCR-ABL1 Test Low Levels

Here are potential causes of low BCR-ABL1 test levels:

Potential Causes	Description
Successful Treatment	Effective therapy for CML or ALL can lead to a decrease in BCR-ABL1 levels.
Remission	Low levels may indicate a period of disease remission and reduced leukemic activity.
Medication Response	A positive response to tyrosine kinase inhibitors can result in lower BCR-ABL1 levels.
Reduced Disease Burden	Lower levels may reflect a decrease in the overall leukemic cell population.
Minimal Residual Disease (MRD) Monitoring	Low BCR-ABL1 levels can indicate MRD negativity, a positive sign in leukemia treatment.
Early Diagnosis	Early detection and intervention can lead to lower initial BCR-ABL1 levels.

Specimen Requirements For BCR-ABL1 Test

Here are the specimen requirements for the BCR-ABL1 Test.

Specimen	Whole blood or bone marrow
Volume	3 to 5 mL whole blood or 1 to 2 mL bone marrow
Container	Lavender-top (EDTA) tube, green-top (sodium heparin) tube, yellow-top (ACD-A) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Collection	Submit at room temperature. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on request form.
Storage	Ship at room temperature. If the specimen must be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection	Specimen does not meet all of the above criteria for sample type, container, minimum volume, collection and storage; unsuitable specimens include but are not limited to: frozen whole blood or marrow; a leaking tube; clotted blood or marrow

BCR-ABL1 Test is Safe?

The BCR-ABL1 test is generally considered safe.

It is a blood test, so it carries minimal risk of complications.
However, like any medical procedure, there may be rare, individual-specific risks or discomfort associated with the test. It's important to discuss any concerns with your healthcare provider.

When Do You Get BCR-ABL1 Test Results?

BCR-ABL1 test results are typically available within a few days to a couple of weeks after the blood sample is taken.
The specific turnaround time may vary depending on the laboratory and testing facility used, so it's advisable to check with your healthcare provider for more precise information.

BCR-ABL1 Test Limitation

Here is the basic limitation of BCR-ABL1 Test.

May not detect certain rare BCR-ABL1 fusion variants.
Results should be interpreted in conjunction with clinical and other diagnostic information.
Monitoring and follow-up are essential for managing chronic myeloid leukemia.

BCR-ABL1 Test Risk Factors

Here are some of the risk factors of the BCR-ABL1 Test.

Exposure to ionizing radiation, such as during certain medical treatments.
Prior chemotherapy or radiation therapy, which can increase the risk of developing BCR-ABL1-positive leukemia.
A family history of chronic myeloid leukemia (CML) may elevate the risk.
Some genetic factors and environmental exposures may contribute to CML development, although the exact causes are often unclear.

Doctor Recommendations After BCR-ABL1 Test Result

Here are the Doctor's recommendations or consult a specialist after the BCR-ABL1 Test.

BCR-ABL1 Result	Doctor to Visit	Reason to Go
High	Hematologist or Oncologist	Evaluate for leukemia treatment options.
Normal	Hematologist or Primary Care Physician	Monitor overall health or underlying conditions.
Low	Hematologist or Oncologist	Assess treatment response and remission status.

BCR-ABL1 Test Price

Here are the estimated BCR-ABL1 Test Prices in India with different top cities:

City	Price Range (INR)*
Mumbai	5,000-10,000
New Delhi	5,500-10,000
Bangalore	5,000-10,000
Hyderabad	5,500-10,000
Kolkata	5,000-10,000
Pune	5,500-10,000
Lucknow	5,000-10,000
Noida	5,500-10,000
Surat	5,500-10,000
Gurugram	5,000-10,000
Patna	5,500-10,000
Chennai	5,000-10,000
Jaipur	5,500-10,000
Ahmedabad	5,000-10,000

*BCR-ABL1 Test Price are approximate and vary depending on a specific laboratory or healthcare facility.

Summary

Overall, BCR-ABL1 Test is a crucial diagnostic tool for detecting and monitoring chronic myeloid leukemia (CML) by identifying the BCR-ABL1 fusion gene, guiding treatment decisions, and assessing treatment response. Also check Drlogy Test for detailed information about all medical tests for patients, doctors, scholers and medical students.

Reference

BCR-ABL1 Test - Wikipedia [1].
BCR-ABL1 Test - NIH [2].

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FAQ

What is a BCR-ABL1 test for genetic abnormality in leukemia?

The BCR-ABL1 test is a diagnostic tool used to detect a specific genetic abnormality in leukemia, known as the Philadelphia chromosome. This chromosome results from a translocation between the BCR and ABL1 genes, leading to the production of a fusion gene. The test helps identify this abnormality, which is most commonly associated with chronic myeloid leukemia (CML) and some cases of acute lymphoblastic leukemia (ALL).

How is the BCR-ABL1 test performed?

The BCR-ABL1 test is typically done using a blood or bone marrow sample. The sample is sent to a specialized laboratory where genetic material is analyzed. Two common methods for this analysis are PCR (polymerase chain reaction) and FISH (fluorescence in situ hybridization). These tests detect the BCR-ABL1 fusion gene's presence and quantify the level of the fusion gene, known as the BCR-ABL1 transcript. The results are reported as a percentage, known as the "BCR-ABL1/ABL1 ratio," which helps gauge the disease burden.

What do BCR-ABL1 test results indicate?

BCR-ABL1 test results indicate the presence and quantity of the BCR-ABL1 fusion gene, expressed as a percentage (BCR-ABL1/ABL1 ratio). A higher percentage suggests a higher disease burden. Results help classify the stage of leukemia, monitor treatment response, and adjust treatment plans accordingly. A deep molecular response (low percentage) is the goal of therapy, indicating a successful response to treatment and a better prognosis.

What treatments are informed by BCR-ABL1 test results?

BCR-ABL1 test results guide treatment choices, especially in CML. They inform the use of tyrosine kinase inhibitors (TKIs), which are targeted therapies designed to inhibit the activity of the BCR-ABL1 fusion protein. The specific TKI and its dosage may vary based on the BCR-ABL1 test results and the stage of the disease. Regular testing helps healthcare providers determine if the treatment is effective or if adjustments are needed.