BCR-ABL1 Gene Fusion Analysis, Qualitative (Major, Minor & Micro)

Test Overview

BCR-ABL1 Gene Fusion Analysis is a molecular diagnostic test used to detect the presence of BCR-ABL1 fusion transcripts associated with certain blood cancers, especially Chronic Myeloid Leukemia (CML) and Acute Lymphoblastic Leukemia (ALL).

This qualitative assay identifies:

• Major (p210)
• Minor (p190)
• Micro (p230)
  BCR-ABL1 fusion transcripts using advanced molecular techniques such as RT-PCR.

Why This Test is Done

This test helps in:

• Diagnosis of Chronic Myeloid Leukemia (CML)
• Diagnosis of Philadelphia chromosome-positive Acute Lymphoblastic Leukemia (Ph+ ALL)
• Detecting rare BCR-ABL1 transcript variants
• Guiding targeted therapy decisions
• Confirming the presence of Philadelphia chromosome-related malignancies

Clinical Significance

Major BCR-ABL1 (p210)

Commonly associated with:

• Chronic Myeloid Leukemia (CML)

Minor BCR-ABL1 (p190)

Commonly associated with:

• Acute Lymphoblastic Leukemia (ALL)
• Some atypical CML cases

Micro BCR-ABL1 (p230)

Rare transcript associated with:

• Chronic neutrophilic leukemia-like disorders
• Indolent CML variants

Methodology

• Reverse Transcriptase Polymerase Chain Reaction (RT-PCR)

Sample Required

• Peripheral Blood / Bone Marrow

Preparation

• No special preparation required

Turnaround Time

• Approximately 3–7 working days

Interpretation

Positive Result

Indicates the presence of BCR-ABL1 fusion transcript suggestive of Philadelphia chromosome-associated leukemia.

Negative Result

No detectable BCR-ABL1 fusion transcript identified in the tested sample.

Applications

• Initial leukemia diagnosis
• Molecular confirmation of CML/ALL
• Therapy planning
• Baseline molecular assessment

Symptoms That May Require Testing

• Persistent fatigue
• Unexplained fever
• Frequent infections
• Weight loss
• Enlarged spleen
• Easy bruising or bleeding
• Abnormal complete blood count (CBC)

Important Notes

• This is a qualitative test and does not quantify transcript levels.
• Clinical correlation with hematology findings, CBC, bone marrow examination, and cytogenetic studies is recommended.
• Follow-up quantitative monitoring may be advised in confirmed cases.

Recommended For

• Patients suspected of leukemia
• Individuals with abnormal WBC counts
• Monitoring molecular diagnosis confirmation
• Oncology and hematology evaluations