Philadelphia Chromosome / Bcr-Abl By Fish

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The Philadelphia Chromosome BCR-ABL by FISH (Fluorescence In Situ Hybridization) test is a genetic test that uses special fluorescent probes to detect the BCR-ABL fusion gene. This abnormal gene is formed when parts of chromosomes 9 and 22 break and reattach, leading to the production of an abnormal protein that is a hallmark of chronic myelogenous leukemia (CML) and certain other leukemias.
FISH is a technique that al

lows doctors to visualize the presence of the Philadelphia chromosome directly in cells from blood or bone marrow. This test identifies whether the chromosomal translocation that forms the BCR-ABL gene is present in the patient’s cells.

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    Description

    Why It’s Done
    The BCR-ABL by FISH test is typically used for:
    • Diagnosing CML or acute lymphoblastic leukemia (ALL) when there is suspicion of the Philadelphia chromosome.
    • Confirming the presence of the Philadelphia chromosome in suspected leukemia cases.
    • Monitoring treatment response in patients with CML to assess whether therapies like tyrosine kinase inhibitors (TKIs) are effectively targeting the leukemia cells.
    • Detecting minimal residual disease (MRD) or relapse by checking for a small number of leukemia cells that may still carry the Philadelphia chromosome, even after treatment.
    • Pre-treatment assessment to better understand the genetic profile of the leukemia.

    Preparation
    • No fasting is required for this test.
    • A blood sample or bone marrow sample may be needed, depending on the doctor’s recommendation.
    o For a blood test, a blood sample is drawn from a vein in your arm.
    o For bone marrow, a sample is taken via a bone marrow aspiration procedure, which involves removing a small amount of bone marrow from the hip bone.
    • No special preparation is needed beyond the standard blood collection procedure.
    • Inform your doctor about any medications or treatments you are currently receiving, as they may impact the results.