This test analyses all chromosomes to see if there are any extra or missing chromosomes. Extra chromosomes can cause problems with sperm production. An example is Klinefelter Syndrome (KS), in which a man has an extra sex chromosome: XXY instead of XY.

During the karyotype test, blood cells are processed and photographed to determine if there are any missing or extra chromosomes, or if there are any structural changes that could prevent you from getting pregnant or that could cause miscarriages.

The test can be performed on almost any tissue, including:

• Amniotic fluid
• Blood
• Bone marrow
• Tissue from the organ that develops during pregnancy to feed a growing baby (placenta)

When Is A Karyotype Test Needed?

You're planning to have children or are pregnant:

• To learn whether you and/or your partner have abnormal chromosomes that you could pass on to a baby
• To find out why you're having problems getting pregnant or having miscarriages
• To check your unborn baby for genetic disorders, especially if the baby has a high risk for problems. The risk may be high if:
  • The pregnant parent is age 35 or older. The overall risk of genetic birth defects is small, but the risk increases after age 35.
  • Either parent has a genetic disorder, a family history of a genetic disorder, or another child with a genetic disorder.
  • The results of certain prenatal screening tests weren't normal.

• You have a family history of a chromosomal disorder and want to know your risk for developing the disorder.
• You and/or your child have symptoms of a genetic disorder. Each type of genetic disorder has different symptoms. Karyotype testing may be needed to make a diagnosis.
• You've been diagnosed with certain cancers or blood disorders that often involve changes in chromosomes

What the Test Results Mean

A normal test result will show 46 chromosomes. Two of these 46 chromosomes are sex chromosomes, which determine the sex of the person being tested, and 44 of them are autosomes. The autosomes are unrelated to determining the sex of the person being tested. Females have two X chromosomes, while males have one X chromosome and one Y chromosome.

How long does it take to get the results?

Typically, the patient may receive the test results in 8-10 working days.