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Chromosome Testing


Why is this procedure done?


Each human cell has 23 pairs of chromosomes. Each chromosome is made up of two strands of genetic information called DNA. Your DNA is made of even smaller units called nucleic acids. The order of the nucleic acids inside your DNA makes your genes. Each pair of chromosomes has thousands of genes and each person has a unique set of genes. ‚  
Sometimes you may have a problem with your genes. Other times you may have too many chromosomes or a part of a chromosome may be missing. Each of these things may lead to a health problem. ‚  
Chromosome testing looks at your genetic makeup. The doctor may order a genetic test to: ‚  
  • Look for extra copies of a chromosome
  • Find out if you have a disorder that is associated with your chromosomes
  • Learn more when pregnancy screening tests are not normal
  • Look for abnormal chromosome levels

The decision to have a genetic test is a personal one. You may find you have many more questions after the test. Talk with your doctor about all possible outcomes of the test before having it. ‚  


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What will the results be?


  • The doctor will look at the results of your test and what is normal.
  • If the results are normal, the doctor did not find problems with your chromosomes. It is possible you could have some other chromosome problems that were not tested for.
  • If the results are not normal, you have more or less chromosomes than other people. Your doctor may order more tests to learn more about what is wrong.
  • The doctor will talk with you about treatment.

What happens before the procedure?


  • This test can be done in a few different ways. Chromosomes may be checked from a:
    • Blood test
    • A sample from a pregnant woman, like amniotic fluid or a chorionic villus sample
    • Bone marrow
    • Tissue
  • How you get ready for the test is based on the kind of test you will be having. Talk to your doctor about what you need to do to get ready for the test. Also talk to your doctor about:
    • All the drugs you are taking
    • If you have any bleeding problems

What happens during the procedure?


Blood test ‚  
It will only take a few minutes to have this test. You will be awake the whole time. You will have a small amount of blood taken from you with a needle. You may have a small amount of pain. The needle will be taken out and a bandage will be put on your skin. The lab will test your blood to see your genes and chromosomes. ‚  
Other kinds of chromosome tests ‚  
Talk with your doctor to learn about what will happen during your kind of test. ‚  

What happens after the procedure?


Blood test ‚  
  • You may want to sit quietly for a few minutes before standing up. This will help keep you from feeling dizzy after the test.
  • Ask your doctor when you will get the results.

Other kinds of chromosome tests ‚  
  • Ask your doctor when you will get the results.

What care is needed at home?


You may do your everyday activities when you get back home. ‚  

What follow-up care is needed?


Your doctor may ask you to make visits to the office to check on your results. Be sure to keep these visits. This test will help your doctor understand if you have a problem with your chromosomes. Together you can make a plan for more care. ‚  

What problems could happen?


  • Pain
  • Bruising
  • Bleeding
  • Feeling dizzy
  • Infection

Where can I learn more?


American Association for Clinical Chemistry ‚  
http://labtestsonline.org/understanding/analytes/chromosome-analysis/tab/test/ ‚  
National Human Genome Research Institute ‚  
http://www.genome.gov/19516567 ‚  

Consumer Information Use and Disclaimer


This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care providers advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you. ‚  

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