Resources > Medical Procedures > B


BCR-ABL1 Genetic Test

The BCR-ABL1 genetic test is a laboratory examination used to detect the presence of a specific genetic abnormality, known as the Philadelphia chromosome, which results from a translocation between chromosomes 9 and 22. This abnormality involves the fusion of two genes: BCR (breakpoint cluster region) and ABL1 (Abelson murine leukemia viral oncogene homolog 1).

Purpose

The primary purpose of the BCR-ABL1 genetic test is to diagnose and monitor certain types of cancer, particularly:

  • Chronic myeloid leukemia (CML)
  • Acute lymphoblastic leukemia (ALL)

Methodology

The BCR-ABL1 genetic test can be performed using various techniques, including:

  • Polymerase chain reaction (PCR): a molecular biology technique used to amplify specific DNA sequences
  • Fluorescence in situ hybridization (FISH): a cytogenetic technique used to detect and locate the presence of specific DNA sequences on chromosomes
  • Reverse transcription polymerase chain reaction (RT-PCR): a molecular biology technique used to amplify specific RNA sequences

Interpretation of Results

The results of the BCR-ABL1 genetic test can be interpreted as follows:

  • Positive result: indicates the presence of the BCR-ABL1 fusion gene, which is associated with CML or ALL
  • Negative result: indicates the absence of the BCR-ABL1 fusion gene
  • Quantitative results: can be used to monitor the level of BCR-ABL1 transcripts in patients undergoing treatment for CML or ALL

Clinical Significance

The BCR-ABL1 genetic test has significant clinical implications, including:

  • Diagnosis: helps establish a diagnosis of CML or ALL
  • Prognosis: provides information on the likelihood of response to treatment and overall prognosis
  • Monitoring: allows for monitoring of disease progression and response to treatment
  • Treatment guidance: informs the selection of targeted therapies, such as tyrosine kinase inhibitors (TKIs)

Limitations and Considerations

The BCR-ABL1 genetic test has several limitations and considerations, including:

  • Sensitivity and specificity: may vary depending on the technique used and the quality of the sample
  • False-negative results: can occur if the sample is degraded or if the BCR-ABL1 fusion gene is not present in the cells analyzed
  • False-positive results: can occur due to contamination or laboratory error

Article last updated on: 15th June 2025.
If you have any feedback, please get in touch.

Diagnosis Pad
Medical AI Assistant with Differentials, Guidance, Transcriptions, Notes, Medical Encyclopedia and Explainable AI.


Available for iOS, macOS and Android.

Medical Disclaimer

The information provided is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of something you have read on this site. We we do not guarantee, and assume no legal liability or responsibility for the accuracy, currency, or completeness of the information provided.