Usually, patients first undergo blood tests to determine their white and red blood cell counts and the types of cells present. Most patients with chronic leukemia have too many white blood cells.
A marrow sample is then drawn during a biopsy and tested using cytogenetics to measure the number and normalcy of the chromosomes. The presence of the Philadelphia chromosome in the marrow cells confirms a diagnosis of CML.
Other techniques may also be used to detect these genetic abnormalities. A sensitive test of the blood or marrow cells, called polymerase chain reaction, can detect the alteration in the DNA caused by the breakage of the Philadelphia chromosome.
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