BCR-ABL1 Genetic Test

Discover the BCR-ABL1 genetic test for diagnosing and monitoring chronic myeloid leukemia and acute lymphoblastic leukemia. Learn more today.

By Telita Montales on Jul 05, 2024.


Fact Checked by Nate Lacson.

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What is a BCR-ABL1 Genetic Test?

The is a pivotal diagnostic instrument in the medical field, specifically in diagnosing and monitoring certain types of leukemia. This test is designed to identify the presence of the BCR-ABL1 fusion gene. This complex genetic marker is frequently associated with chronic myeloid leukemia (CML) and specific forms of acute lymphoblastic leukemia (ALL).

The ability to pinpoint this fusion gene plays an essential role in not only confirming a diagnosis of these diseases but also in determining the phase or stage of the disease in the patient's body. This information is crucial as it directly influences the treatment plan and can significantly affect the patient's prognosis.

Furthermore, the BCR-ABL1 genetic test is also employed as an ongoing monitoring tool during treatment. It helps medical professionals track the effectiveness of the treatment being administered and make necessary adjustments to ensure optimal patient outcomes.

How does it work?

Understanding the step-by-step process of the BCR-ABL1 genetic test can provide valuable insight into its functionality and effectiveness. This test, designed to detect the BCR-ABL1 fusion gene, involves a detailed and meticulous procedure. The steps involved in this diagnostic process include:

Step 1: Sample Collection

The first step in the BCR-ABL1 genetic test is the collection of a sample from the patient. This typically involves drawing a blood sample or, in some cases, a bone marrow sample. This sample is then prepared for further testing. The collection process is usually quick and causes minimal discomfort to the patient.

Step 2: DNA Extraction

Once the sample has been collected, the next step is DNA extraction. In this phase, DNA is carefully extracted from the cells present in the collected sample. This isolated DNA will then serve as the basis for subsequent testing and analysis.

Step 3: PCR Amplification

Following DNA extraction, the target DNA sequence, specifically the BCR-ABL1 gene, is amplified using a technique known as Polymerase Chain Reaction (PCR). This process increases the quantity of the target DNA, making it easier to detect and analyze in the subsequent stages of the test.

Step 4: Detection

The final step in the BCR-ABL1 genetic test is detection. In this stage, the previously amplified DNA is detected and quantified. If present, this process identifies the BCR-ABL1 fusion gene and provides valuable information regarding the patient's condition.

A report detailing the findings is generated at the end of this process. We have a printable BCR-ABL1 genetic test for a practical understanding.

BCR-ABL1 Genetic Test Example (Sample)

To provide a practical understanding of what a BCR-ABL1 genetic test entails and the kind of results it yields, let's delve into an example of a typical test report.

A standard BCR-ABL1 genetic test report primarily includes information about the quantity of the BCR-ABL1 fusion gene detected in the sample. This data is typically expressed as a percentage relative to the total control genes. This quantification is crucial as it aids in diagnosing and monitoring diseases like chronic myeloid leukemia (CML) and certain types of acute lymphoblastic leukemia (ALL).

This report serves as a valuable tool for healthcare professionals in determining the phase of the disease and tracking the patient's response to treatment. It offers critical insights that aid in shaping the course of the patient's treatment plan.

We have a sample BCR-ABL1 Genetic Test PDF below for a more tangible understanding. This should provide a clearer picture of the information typically included in such a report.

Download this BCR-ABL1 Genetic Test Example:

BCR-ABL1 Genetic Test Example (Sample)

When would you use this test?

The BCR-ABL1 genetic test is a specialized diagnostic tool important in specific medical scenarios. It's essential to understand when it's appropriate to deploy this resource to ensure its effective use.

Primarily, a healthcare provider would order a BCR-ABL1 genetic test when there is a suspicion that a patient may have chronic myeloid leukemia (CML) or certain types of acute lymphoblastic leukemia (ALL). These suspicions could arise due to a combination of factors, such as the patient's symptoms, physical examination results, or findings from other laboratory tests. Symptoms leading to such suspicions could include fatigue, weight loss, night sweats, or an enlarged spleen.

The BCR-ABL1 genetic test does not just serve a diagnostic purpose; it's also a crucial tool for monitoring disease progression. By quantifying the amount of the BCR-ABL1 fusion gene, healthcare providers can determine the phase of the disease and track how it evolves. This information is invaluable in shaping the treatment plan and making necessary adjustments.

Additionally, the BCR-ABL1 genetic test is used to monitor the patient's response to treatment. By comparing the quantities of the BCR-ABL1 fusion gene before and after treatment, healthcare providers can gauge the effectiveness of the treatment strategy and make informed decisions about future course of action.

The BCR-ABL1 genetic test is a vital resource for healthcare practitioners dealing with CML or ALL. Its use is particularly appropriate when diagnosing these diseases, tracking their progression, and monitoring the response to treatment.

What do the results mean?

Understanding the implications of your BCR-ABL1 genetic test results is crucial in managing your health. Here's what those results generally signify.

A positive result on the BCR-ABL1 genetic test means that the BCR-ABL1 fusion gene was detected in the sample. This detection strongly indicates the presence of chronic myeloid leukemia (CML) or certain types of acute lymphoblastic leukemia (ALL). However, it's important to note that a positive result does not definitively diagnose these conditions; it simply raises the possibility of their presence, warranting further diagnostic testing and clinical evaluation.

The ratio of BCR-ABL1 to control genes, as provided in the test report, offers valuable insights into the disease's severity and progression. A higher ratio could suggest a more advanced stage of the disease or a less-than-optimal response to treatment. Conversely, decreasing this ratio over time often indicates a favorable response to therapy.

It's also worth noting that a negative result does not entirely rule out the presence of CML or ALL. It simply means the BCR-ABL1 fusion gene was undetected in the tested sample. Other tests may be necessary to confirm the diagnosis based on the patient's symptoms and clinical history.

Interpreting the BCR-ABL1 genetic test results should always be done with other diagnostic procedures and clinical findings. The results provide a piece of the puzzle but should be considered within the larger context of the patient's overall health status.

We have a Free BCR-ABL1 Genetic Test available for a comprehensive understanding.

Research & Evidence

The BCR-ABL1 genetic test has a solid foundation in medical research, with extensive studies corroborating its effectiveness in diagnosing and monitoring chronic myeloid leukemia (CML) and certain types of acute lymphoblastic leukemia (ALL).

The genesis of this test stems from the groundbreaking discovery of the Philadelphia chromosome in the late 1950s. This abnormal chromosome, resulting from a translocation between chromosomes 9 and 22, leads to the formation of the BCR-ABL1 fusion gene. This fusion gene is a characteristic feature of CML and some types of ALL, making it a crucial biomarker for these diseases.

Over the years, research has continually reinforced the value of the BCR-ABL1 genetic test. Numerous studies have highlighted its accuracy in detecting the presence of the BCR-ABL1 fusion gene. Moreover, research has demonstrated that quantifying this gene can provide important insights into disease severity and progression.

A landmark study underscored the significance of monitoring BCR-ABL1 levels in patients receiving tyrosine kinase inhibitor therapy for CML. The study found that tracking these levels could predict treatment response and survival outcomes.

Furthermore, guidelines from reputable health organizations like the National Comprehensive Cancer Network (NCCN) and the European LeukemiaNet (ELN) recommend the use of the BCR-ABL1 genetic test for diagnosing and monitoring CML and ALL. These guidelines lend substantial credibility to the test's utility in clinical practice.

The BCR-ABL1 genetic test stands on a robust platform of research and evidence. Its pivotal role in diagnosing and managing CML and certain ALL types is well-supported by many scientific studies and clinical guidelines.

Why use Carepatron as your BCR-ABL1 Genetic app?

When it comes to conducting and managing BCR-ABL1 genetic tests, Carepatron stands out as a superior choice. Our BCR-ABL1 genetic test software offers a seamless blend of efficiency, user-friendliness, and secure data handling. Here's why Carepatron should be your go-to platform for BCR-ABL1 genetic testing.

Simple Practice Management

Carepatron is designed with the user in mind. Its intuitive interface requires no training, allowing healthcare practitioners to focus more on their patients and less on navigating complicated software. Whether you're a general practice or a specialized field like psychiatry or occupational therapy, our platform simplifies practice management.

Globally Compliant EHR

At Carepatron, we understand the importance of data security in healthcare. Our online patient portal software meets worldwide security requirements - HIPAA, GDPR, & HITRUST, ensuring that your work is safe and secure, no matter where you are.

Made for Collaboration

Carepatron is built to support healthcare teams, promoting better sharing across your team, professional network, and clients. Our patient scheduling software makes collaboration as easy as if everyone were in the same room, which is especially beneficial for fields that require frequent collaboration, such as mental health or physical therapy.

Trusted Worldwide

Carepatron has proven its reliability and effectiveness with users across the globe in diverse healthcare settings. We consistently strive to deliver a beautiful experience every day, whether you're using our life coaching software, mental health EHR, or medical payment software.

Carepatron is not just a BCR-ABL1 genetic test app; it's a comprehensive practice management solution that prioritizes simplicity, security, and collaboration. By choosing Carepatron, you're investing in a tool that enhances your practice and delivers beautiful experiences daily. Try Carepatron today.

Clinical Documentation Software


  1. Nowell, P. C. (2007, August 1). Discovery of the Philadelphia chromosome: a personal perspective. Journal of Clinical Investigation; American Society for Clinical Investigation. https://doi.org/10.1172/jci31771 
  2. BCRAB - Overview: BCR/ABL1, p210, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Chronic Myeloid Leukemia (CML), Varies. (n.d.). https://www.mayocliniclabs.com/test-catalog/Overview/89007 
  3. BAKDM - Overview: BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies. (n.d.). https://www.mayocliniclabs.com/test-catalog/Overview/89609 
  4. Hochhaus, A., Baccarani, M., Silver, R. T., Schiffer, C. A., Apperley, J. F., Cervantes, F., Clark, R. E., CortǸs, J. E., Deininger, M. W., Guilhot, F., Hjorth�?�Hansen, H., Hughes, T. P., Janssen, J., Kantarjian, H. M., Kim, D. W., Larson, R. A., Lipton, J. H., Mahon, F., Mayer, J., . . . Hehlmann, R. (2020, March 3). European LeukemiaNet 2020 recommendations for treating chronic myeloid leukemia. Leukemia; Nature Portfolio. https://doi.org/10.1038/s41375-020-0776-2 
Who typically requests a BCR-ABL1 Genetic Test?
Who typically requests a BCR-ABL1 Genetic Test?

Commonly asked questions

Who typically requests a BCR-ABL1 Genetic Test?

Healthcare providers, such as hematologists and oncologists, typically request this test when they suspect a patient has CML or ALL.

When are BCR-ABL1 Genetic Tests used?

They're used for diagnosis, determining disease phase, and monitoring response to treatment in patients with suspected or confirmed CML or certain types of ALL.

How are BCR-ABL1 Genetic Test used?

The test is used to detect the presence of the BCR-ABL1 fusion gene in a blood or bone marrow sample.

How long does a BCR-ABL1 Genetic Test take?

The time it takes to get results can vary, but it's generally within a few days to a week.

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