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Diagnosis of leukemia can be made through the following methods:

  • Medical history and physical examination: The patients presented with persistent fatigue, shortness of breath, weight loss, and increased sweating at night undergo comprehensive health evaluation. They are enquired about the development, frequency, and progression of symptoms. The oncologist also checks for swollen lymph nodes and spleen and liver enlargement. The medical history of the patients may also be evaluated as certain genetic conditions, such as neurofibromatosis, Schwachman-Diamond syndrome, Klinefelter syndrome, and Down syndrome, increase the risk of leukemia. Further, the family history of the patients also provides crucial information about the risk of leukemia.
  • Blood tests: The blood test is the common preliminary test recommended to patients with most diseases. Blood tests assist in evaluating the overall health of the body. They also provide detailed information about the number of blood cells that may potentially indicate the presence of leukemia. It is to be noted that not all types of leukemia result in the circulation of abnormal cells in the blood. Some cancerous cells are limited to bone marrow.
  • Histological analysis: In some rare cases, histology alone may be useful in diagnosing leukemia. For instance, acute myelogenous leukemia is characterized by needle-like bodies (Auer rods) on a peripheral smear. Further, other histological analyses, such as cytogenetics, flow cytometry, and FISH, assist in differentiating the subtypes.
  • Bone marrow tests: Bone marrow is present in the core of long bones, such as the femur. The patients may undergo bone marrow tests by obtaining a sample of bone marrow and analyzing it in the laboratory. The samples of bone marrow are obtained through a long, thin needle. Specialized techniques are used to determine the characteristics of cancer cells that help in developing the treatment strategy.
  • Genetic testing: Certain genetic tests are performed to determine the types of leukemia. The types of genetic tests included are conventional cytogenetics, polymerase chain reaction, and fluorescent in situ hybridization (FISH).
  • CT scan: Although computed tomography does not help diagnose leukemia, it helps the doctor determine the spread of leukemia to the spleen or lymph nodes. It provides detailed imaging of the organs to which there is the possibility of leukemia spreading.
  • Magnetic resonance imaging: Magnetic resonance imaging creates images of the organs with strong magnets and radio waves. Magnetic resonance imaging helps in determining the spread of leukemia to various organs, such as the brain and spinal cord.
  • Ultrasound: Ultrasound has the advantage of not using harmful radiation. It helps in diagnosing swollen lymph nodes near the body surface. It also helps detect organ enlargements, such as the spleen, liver, and kidneys.
  • Liver function tests: The patients are also advised to undergo liver function tests to determine the overall health of the liver. Abnormal liver function test results may indicate the spread of leukemia to the liver.
  • Lumbar puncture: This test is recommended when the oncologists suspect leukemia has spread to the brain and spinal cord. This test involves taking a sample of cerebrospinal fluid from the spinal cord and examining the sample for the presence of cancer cells.

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