Why is this procedure done?
Each human cell has 23 pairs of chromosomes. Inside of each chromosome are long, twisted units of genetic information. This is your DNA. Your DNA is made of many tiny units called genes. Each person has a unique set of genes. Parents pass genes to their children. ‚
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. Genetic testing looks at your genetic makeup. ‚
The doctor may order a genetic test to: ‚
- Help diagnose a disease or predict if you will get a disease in the future
- Learn how well a kind of drug will work for you
- Learn about your identity for an investigation
- Understand your relationship to some other person
- Learn about your tissues for organ transplant
- Look at your chromosomes
- Track an infectious disease
- Get information on certain kinds of genes
- Look for an abnormal chromosome level
- Understand how likely you are to pass on a condition to your children
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. The doctor will know if you have an illness that needs treatment.
- If the results are normal, your chromosomes are likely normal in number and structure.
- If the results are not normal, you may have too many or too few chromosomes. They may also have an abnormal structure. A positive test may mean you are more likely to get a disease.
- Your doctor may order another test to verify the diagnosis.
- The doctor will talk with you about treatment.
What happens before the procedure?
- There are no special things to do before the test.
- Talk to your doctor about:
- All the drugs you are taking
- If you have any bleeding problems
- Your familys medical history. You may want to talk with a genetic counselor.
What happens during the procedure?
Genetic tests can use blood, cheek swab, or amniotic fluid (the fluid around your fetus during pregnancy). ‚
- 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.
- Cheek Swab
- It will only take a few minutes to have this test. You will be awake the whole time. The staff will wipe the inside of your cheek with a swab.
- Amniotic Fluid
- You will be awake during the procedure. Once in the exam room, the staff will ask you to change into a hospital gown.
- Your doctor will tell you to lie on an exam bed with your belly exposed. Your doctor may inject a numbing drug in your belly. You may feel some pain while this happens. The drug will help you stay pain-free during the procedure.
- Your doctor will clean your belly using an antiseptic. The doctor will put a long, thin needle through your belly and into your amniotic fluid. Sometimes, an ultrasound is used to guide the needle. A small amount of fluid is taken and the needle is gently removed.
- You may need to have this procedure done again, especially if you are carrying more than one baby.
- The procedure takes 30 to 45 minutes.
The lab will test the sample to see your genes and chromosomes. ‚
What happens after the procedure?
- 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.
What care is needed at home?
- You may do your everyday activities when you get back home if you had blood drawn or a cheek swab.
- If you had amniotic fluid taken, ask your doctor if you need to rest for a longer time.
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 genes and chromosomes. Together you can make a plan for more care. ‚
What problems could happen?
- Pain
- Bruising
- Bleeding
- Feeling dizzy
- Infection
- Problems with your pregnancy like miscarriage or fluid leaking
Where can I learn more?
FamilyDoctor.org ‚
http://familydoctor.org/familydoctor/en/prevention-wellness/staying-healthy/healthy-living/genetic-testing-what-you-should-know.printerview.all.html ‚
National Human Genome Research Institute ‚
http://www.genome.gov/19516567 ‚
U.S. Department of Health and Human Services ‚
http://www.accessexcellence.org/AE/AEPC/NIH/gene02.php ‚
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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Copyright ‚ © 2015 Clinical Drug Information, LLC and Lexi-Comp, Inc. ‚