A karyotype is an individual’s collection of chromosomes. The term also refers to a laboratory technique that produces an image of an individual’s chromosomes. The karyotype is used to look for abnormal numbers or structures of chromosomes. Extra, missing, or abnormal positions of chromosome pieces can cause problems with a person’s growth, development, and body functions.
This test can:

  • Count the number of chromosomes
  • Look for structural changes in chromosomes

This test may be done:

  • On a couple that has a history of miscarriage
  • To examine any child or baby who has unusual features or developmental delays

The bone marrow or blood test can be done to identify the Philadelphia chromosome, which is found in 85% of people with chronic myelogenous leukemia (CML).
The amniotic fluid test is done to check a developing baby for chromosome problems.
How the Test is Performed
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)
  • To test amniotic fluid, an amniocentesis needs to be done.


Specimen type: Whole blood
Preferred collection container: 10 mL green/green-top (sodium heparin) tube
Specimen required:   3-5 mL whole blood

Special notes:

  • Clinical history and patient information are required with test order.
  • Do not centrifuge or refrigerate.
    Transport temperature: Room temperature.
    Rejection criteria: Frozen specimens unacceptable.

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