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Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a person's growth, development, and body functions.
Karyotyping is done to:
You do not need to do anything before you have this test.
Since the information obtained from karyotyping can have a profound impact on your life, ask to talk to a genetic counsellor before making a decision about a karyotype test. You may also want to see a doctor who specializes in genetics (geneticist). This type of counsellor is trained to help you understand what karyotype test results mean for you, such as your risk for having a child with an inherited (genetic) condition like Down syndrome. A genetic counsellor can help you make well-informed decisions.
Karyotype testing can be done using almost any cell or tissue from the body. A karyotype test usually is done on a blood sample taken from a vein. For testing during pregnancy, it may also be done on a sample of amniotic fluid or the placenta.
A health professional uses a needle to take a blood sample, usually from an arm.
For this type of test, cells are collected from the fetus using amniocentesis or chorionic villus sampling.
Bone marrow aspiration may be used for a karyotype test.
Karyotype testing is usually done using a blood sample from a vein. You may feel nothing at all from the needle, or you may feel a quick sting or pinch.
There is very little chance of having a problem from this test. A small bruise may form at the site.
Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells.
Results of a karyotype test are usually available within 1 to 2 weeks.
Adaptation Date: 2/24/2022
Adapted By: Alberta Health Services
Adaptation Reviewed By: Alberta Health Services
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