Why is genetic testing done?

Why is genetic testing done?

Genetic testing may be done for many different reasons, including to:

  1. Find genetic diseases in unborn babies. This is one type of prenatal testing.

  2. Screen newborn babies for certain treatable conditions

  3. Lower the risk of genetic diseases in embryos that were created using assisted reproductive technology

  4. Find out if you carry a gene for a certain disease that could be passed on to your children. This is called carrier testing.

  5. See whether you are at increased risk of developing a specific disease. This may be done for a disease that runs in your family.

  6. Diagnose certain diseases

  7. Identify genetic changes that may be causing or contributing to a disease that you were already diagnosed with

  8. Figure out how severe a disease is

  9. Help guide your doctor  in deciding the best medicine and dosage for you. This is called pharmacogenomic testing.

How is genetic testing done?

Genetic tests are often done on a blood or cheek swab sample. But they may also be done on samples of hair, saliva, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. The sample is sent to a laboratory. There, a lab technician will use one of several different techniques to look for genetic changes.

What are the benefits of genetic testing?

The benefits of genetic testing include:

Helping doctors make recommendations for treatment or monitoring

Giving you more information for making decisions about your health      and your family's health:

·    If you find out that you are at risk for a certain disease, you might take steps to lower that risk. For example, you may find out that you should be screened for a disease earlier and more often. Or you might decide to make healthy lifestyle changes.

·    If you find out that you are not at risk for a certain disease, then you can skip unnecessary checkups or screenings

·    A test could give you information that helps you make decisions about having children

Identifying genetic disorders early in life so treatment can be started as soon as possible 

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