Chronic Myeloid Leukemia (CML) is a type of cancer that begins in the blood-forming cells of the bone marrow. It is characterized by an increased production of white blood cells, called granulocytes, that can infiltrate other tissues throughout the body. CML is often associated with a genetic abnormality known as the Philadelphia chromosome, a result of a translocation between chromosomes 9 and 22, creating a fusion gene known as BCR-ABL. The Philadelphia chromosome and the resulting BCR-ABL gene are pivotal in the development and progression of CML, leading to unchecked cell growth and proliferation.
Screening for CML often involves two crucial tests - Karyotyping and Fluorescence In Situ Hybridization (FISH) for the detection of the BCR-ABL fusion gene.is a test that involves staining and visualization of the chromosomes in a cell. It can reveal structural abnormalities in chromosomes, such as translocations, deletions, or duplications. In the case of CML, karyotyping can confirm the presence of the Philadelphia chromosome, which is characteristic of the disease.
On the other hand, is a more targeted test. It uses fluorescently labelled DNA probes that bind to the BCR and ABL genes. Under a special microscope, the probes light up when they bind to their target genes, allowing for the visualization and localization of specific genetic sequences on the chromosomes. FISH for BCR-ABL can confirm the presence of the BCR-ABL fusion gene that results from the translocation between chromosomes 9 and 22.
Test NameChronic Myeloid Leukemia Screen: Karyotyping and BCR/ABL By FISH
Sample TypeBlood, Bone Marrow
Preparations RequiredNo specific preparation is required prior to the test.
Report Time12 Days for Karyotype & 5 Days for FISH
What is Chronic Myeloid Leukemia (CML)?
CML is a form of cancer that begins in the blood-forming cells of the bone marrow and leads to the overproduction of white blood cells. It is associated with a genetic abnormality known as the Philadelphia chromosome.
Why is karyotyping important in diagnosing CML?
Karyotyping provides a broad overview of the chromosomal landscape in a cell. In CML, it can detect the presence of the Philadelphia chromosome, which is indicative of the disease.
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Frequently Asked Questions
The BCR-ABL fusion gene is the result of a translocation between chromosomes 9 and 22. This gene produces an abnormal protein that promotes the uncontrolled growth of white blood cells, leading to CML.
FISH is a targeted test that can detect specific genetic sequences on the chromosomes. FISH for BCR-ABL is used to confirm the presence of the BCR-ABL fusion gene, thereby confirming a diagnosis of CML.
Symptoms of CML can include fatigue, weight loss, night sweats, and discomfort or fullness on the left side of the abdomen due to an enlarged spleen. However, some people with CML may not have any symptoms, and the disease is often found during routine blood tests.
The primary treatment for CML is medication, particularly tyrosine kinase inhibitors, which target the BCR-ABL protein produced by the BCR-ABL gene. Other treatments may include chemotherapy, targeted therapy, immunotherapy, and stem cell transplant.
No, CML is not typically inherited. It is caused by a genetic change that happens during a person's lifetime.
While CML can often be controlled with medication, it is difficult to say if it is completely cured. Some patients may achieve a deep molecular response, meaning that the disease is not detectable with the most sensitive tests.
Monitoring is essential for assessing the response to treatment and detecting any changes in the disease. It usually involves regular blood tests and sometimes bone marrow tests.
Side effects can vary but may include fatigue, nausea, diarrhea, muscle cramps, and skin rash. It is important to discuss any side effects with the doctor, as adjustments to the medication or supportive care may be needed.
The Philadelphia chromosome is a shortened chromosome 22 that results from a translocation with chromosome 9. It is a hallmark of CML and leads to the creation of the BCR-ABL fusion gene, responsible for the disease's development.
Early diagnosis of CML is critical because it can be more effectively managed in the early stages, often with oral medications. This can lead to longer life expectancy and improved quality of life.
Yes, if not properly managed, CML can progress to a more aggressive phase called blast crisis, which is harder to treat and control.
If diagnosed with CML, it is important to consult a doctor specialized in hematology or oncology. It is also vital to follow the treatment regimen and communicate openly with the doctor regarding any concerns or side effects.
Yes, there are several support groups and organizations that can provide information, resources, and emotional support for individuals with CML and their families.
Chronic Myeloid Leukemia is a serious condition, but with early diagnosis and proper management, patients can lead a normal life. The tests for CML, including karyotyping and FISH for BCR-ABL, are indispensable for diagnosis and monitoring. Communication with the doctor, adherence to the treatment regimen, and support from loved ones and support groups are key components in managing this disease.
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