BCR-ABL1 gene fusion analysis,quantitative (Major or Minor)

BCR-ABL1 Gene Fusion Analysis, Quantitative (Major or Minor)

Overview

The BCR-ABL1 Gene Fusion Analysis, Quantitative test detects and measures the amount of BCR-ABL1 fusion transcript present in blood or bone marrow samples. This fusion gene is formed due to a chromosomal translocation known as the Philadelphia Chromosome and is a key diagnostic marker for certain leukemias.

The test helps diagnose, monitor treatment response, and assess disease progression in patients with:

• Chronic Myeloid Leukemia (Major transcript)
• Acute Lymphoblastic Leukemia (Minor transcript)
• Rare cases of other myeloproliferative disorders

Test Method

• Quantitative Real-Time PCR (qRT-PCR)
• Sample Type: Peripheral Blood or Bone Marrow
• Report Format: International Scale (IS%) and transcript copy number

What Does the Test Detect?

Major BCR-ABL1 Transcripts

• p210 (e13a2/b2a2, e14a2/b3a2)
• Commonly associated with CML

Minor BCR-ABL1 Transcripts

• p190 (e1a2)
• Commonly associated with Ph-positive ALL

Why is this Test Ordered?

• Diagnosis of CML or Ph-positive ALL
• Establishing baseline disease burden
• Monitoring response to Tyrosine Kinase Inhibitor (TKI) therapy
• Detecting minimal residual disease (MRD)
• Identifying relapse after treatment

Clinical Significance

• Presence of BCR-ABL1 confirms Philadelphia chromosome-associated leukemia.
• Quantitative monitoring helps evaluate treatment effectiveness.
• Falling transcript levels indicate a favorable response.
• Rising transcript levels may suggest treatment resistance or disease relapse.

Interpretation of Results

Preparation

• No fasting required.
• Inform your physician about ongoing cancer therapies or recent bone marrow transplantation.
• Blood sample collection is typically sufficient for monitoring.

Benefits of the Test

• Highly sensitive and specific detection
• Enables early assessment of treatment response
• Helps guide targeted therapy decisions
• Supports long-term disease monitoring
• Detects residual disease before clinical relapse

FAQ

Q: What is the Philadelphia chromosome?
A genetic abnormality created by the exchange of genetic material between chromosomes 9 and 22, resulting in the BCR-ABL1 fusion gene.

Q: Why are repeated tests required?
Regular monitoring helps determine how well treatment is working and detects relapse early.

Q: What is Major Molecular Response (MMR)?
A significant reduction in BCR-ABL1 transcript levels, indicating effective treatment and improved prognosis.

Q: Can this test be used after treatment?
Yes. It is routinely used to monitor residual disease and long-term treatment response.

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