Cytogenetic testing

Cytogenetic testing looks for specific abnormalities in the chromosomes of blood cells that are linked to leukemia. The analysis can be performed on peripheral blood or bone marrow. This information helps your doctor predict how your disease will progress and determine the most effective course of treatment. Some types of chromosomal abnormalities are more difficult to treat than others.

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In a microscopic cytogenetic analysis, the chromosomes are examined during cell division using a microscope. This analysis is primarily used as an initial screening, to see what chromosomes might be abnormal and to help the doctor choose more specific tests.

Fluorescent in situ hybridization (FISH) uses special fluorescent proteins to detect or confirm chromosome abnormalities. FISH is a highly sensitive testing technique. It offers the advantage of being able to evaluate many more cells than is possible using a microscope but can only detect a particular abnormality or a specific group of abnormalities.

The polymerase chain reaction (PCR) test is a very specialized and sensitive molecular test. PCR is performed on either blood or bone marrow samples to identify leukemia cells based on the cells' genetic abnormalities. This test can find one tumor cell among a million normal cells. It is primarily used to monitor a patient's health during follow-up because it shows how completely the leukemia has been destroyed by treatment and whether a relapse is likely if treatment is stopped.