Karyotyping
Alternate Names : Chromosome Analysis
Definition
Karyotyping is a test to identify chromosome abnormalities as the cause of malformation or disease. This test can:
- Count the number of chromosomes
- Look for structural changes in chromosomes
The results may indicate genetic changes linked to a disease.
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Why is the Test Performed?
The blood test is usually performed to evaluate a couple with a history of miscarriages or to evaluate an abnormal appearance of the body that suggests a genetic abnormality. The bone marrow or blood test can be done to identify the Philadelphia chromosome that is present in 85% of those with Chronic myelogenous leukemia (CML). The amniotic fluid test is done to evaluate a developing fetus for chromosome abnormalities.
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