BCR-ABL Qualitative PCR

The BCR-ABL gene is an abnormal fusion gene formed when parts of the BCR gene on chromosome 22 and the ABL gene on chromosome 9 join together due to a chromosomal translocation, commonly known as the Philadelphia chromosome. This translocation creates an activated protein kinase that causes uncontrolled growth of white blood cells. The Philadelphia chromosome is commonly found in Chronic Myeloid Leukemia (CML) and Acute Lymphoid Leukemia (ALL). The BCR-ABL gene change is seen in over 95% of CML patients, 5% of children with ALL, and 15–30% of adults with ALL.

The BCR-ABL Qualitative PCR test checks if the BCR-ABL gene transcript is present in a patient’s blood or bone marrow. It can also identify the specific type of transcript, such as p210, p190, or p230. This test does not measure how much of the transcript is there; it only confirms whether it is present or absent, helping doctors make an accurate diagnosis. 

This test is particularly useful when there are clinical signs of leukemia, such as persistently high white blood cell counts, fatigue, unexplained bruising, or splenomegaly, or when a doctor wants to confirm the presence of the Philadelphia chromosome before initiating targeted therapy with tyrosine kinase inhibitors. It can also be used when previous tests were inconclusive or as a preliminary screening before quantitative monitoring begins.

It is important to provide a brief clinical history or the doctor’s prescription at the time of sample collection. This ensures the laboratory has all necessary patient information for accurate analysis and helps correlate the test findings with the patient’s clinical condition.

Laboratory test results may vary depending on the testing method and platform used. Therefore, lab results should always be interpreted by a qualified hematologist or oncologist, as detection of BCR-ABL requires expert guidance to determine next steps in diagnosis, treatment, or follow-up monitoring. Patients should avoid self-diagnosis or treatment based on results alone.