FISH for BCR/ABL - t(9;22)

FISH for BCR/ABL - t(9;22)

The FISH (Fluorescence In Situ Hybridization) test for BCR/ABL t(9;22) is an essential diagnostic and monitoring tool in cases of chronic myeloid leukemia (CML) and certain types of acute lymphoblastic leukemia (ALL). The translocation t(9;22), often termed the Philadelphia chromosome, involves a swap of genetic material between chromosomes 9 and 22, resulting in the fusion of the BCR and ABL genes. The BCR/ABL fusion gene leads to the production of an abnormal tyrosine kinase protein, which contributes to uncontrolled cell growth and division - characteristic features of leukemia.

The FISH test for BCR/ABL utilizes fluorescent probes that bind to specific areas within the DNA, including the BCR and ABL genes. This allows the visualization of the chromosomal translocation under a fluorescence microscope, aiding in the detection and monitoring of diseases related to this gene fusion.

  • Test NameFISH for BCR/ABL - t(9;22)
  • Sample TypeBlood or Tissue
  • Preparations RequiredThere are no specific preparation instructions for patients before undergoing this test. However, it is important to follow any instructions given by the doctor or laboratory.
  • Report Time5 days

What is the FISH test for BCR/ABL t(9;22)?

The FISH test for BCR/ABL t(9;22) is a diagnostic procedure that detects the presence of the Philadelphia chromosome, a genetic abnormality resulting from a translocation between chromosomes 9 and 22. This translocation leads to the creation of the BCR/ABL fusion gene, associated with chronic myeloid leukemia and some types of acute lymphoblastic leukemia.

Why is the FISH test for BCR/ABL t(9;22) important?

The test is important for the diagnosis of CML and certain cases of ALL. It is also used for monitoring the progression of these diseases and evaluating the effectiveness of therapies, especially tyrosine kinase inhibitors.

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Frequently Asked Questions

A blood sample or bone marrow aspirate is collected from the patient. The sample is then treated with fluorescent probes that attach to the BCR and ABL genes. Under a fluorescence microscope, the presence of the fusion gene can be visually confirmed if the probes are in close proximity.

A positive result indicates the presence of the BCR/ABL fusion gene and may confirm a diagnosis of CML or a type of ALL. A negative result suggests the absence of the gene fusion. In patients undergoing treatment, a decrease in the fusion gene may indicate a positive response to therapy.

This test is recommended for individuals suspected of having CML or ALL, and for patients already diagnosed with these conditions to monitor disease progression and response to treatment.

The risks are minimal and primarily relate to the blood or bone marrow sample collection. There might be slight pain, bleeding, or bruising at the collection site.

The BCR/ABL fusion gene produces an abnormal tyrosine kinase protein that promotes uncontrolled cell division and growth, leading to the overproduction of white blood cells, a characteristic of leukemia.

Yes, tyrosine kinase inhibitors such as imatinib are effective treatments for leukemia caused by the BCR/ABL fusion gene. These drugs inhibit the action of the abnormal protein produced by the fusion gene.

For patients under treatment for CML or ALL, the frequency of testing should be determined by the doctor based on the patient's response to treatment and disease progression. For newly diagnosed patients, the test is usually performed at the time of diagnosis.

No, this specific test is designed to detect the t(9;22) translocation. There are other FISH tests available for different chromosomal abnormalities.

If you test positive, it's important to consult your doctor to discuss treatment options and next steps in managing the disease.

The results of the FISH test for BCR/ABL are not influenced by environmental factors, but it is crucial that the test is performed in a specialized laboratory to ensure accuracy.

If a patient does not respond to tyrosine kinase inhibitors, alternative therapies including different medication regimens, stem cell transplant, or participation in clinical trials may be considered.

The BCR/ABL fusion gene is not inherited; it is acquired during a person's lifetime. The cause of the translocation is not fully understood, but it is not passed down from parents to children.

While CML and ALL are not always curable, they can often be effectively managed with treatment. Early detection and appropriate treatment are essential for improving prognosis.

The role of the BCR/ABL fusion gene in leukemia is crucial for diagnosis, monitoring, and management of the disease. The FISH test for BCR/ABL t(9;22) is an indispensable tool that enables doctors to make informed decisions regarding the best treatment strategies for patients. Open communication with your doctor is vital in understanding the implications of test results and exploring the available options for disease management and therapy.

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