Genetic testing involves your DNA examination to reveal any changes or mutations that can cause illness or disease. The test provides essential information for diagnosing, treating, and preventing diseases but has some limitations. For example, if you are healthy, a positive result from genetic testing doesn’t always mean you will develop a disease, and a negative result doesn’t guarantee that you will not develop a particular disorder. Genetic testing can be done for various reasons; for example, Winter Park genetic testing can help detect some types of abnormalities in your baby’s genes. It can also screen embryos for genetic abnormalities before they are implanted in the uterus.

How safe is genetic testing?

Generally, genetic tests are not associated with any physical risks. Blood and cheek swab tests cause no physical harm—however, some tests like chorionic villus sampling and amniocentesis risk pregnancy loss (miscarriage). The test can also have social, emotional, and financial risks. Therefore, discussing the benefits and risks of genetic testing with your genetic counselor before having the test is vital.

How to prepare for genetic testing

Before genetic testing, you should gather all the information you can about your family’s medical history. Discussing personal and family medical history with your doctor or genetic counselor will help you understand the risks and how they apply to you. During the discussion, you can also ask questions about genetic testing to eliminate any uncertainties. You can also talk about your options based on the test results.

If you are getting tested for a genetic disorder in your family, you may want to discuss your decision with your family. It may be a complicated conversation, but it gives you a sense of how your family might respond to the results and how it may affect them.

What to expect during genetic testing

The details of the test vary depending on your genetic test type. Your doctor collects a sample of your skin, blood, amniotic fluid, or other tissue and sends it to a lab for analysis. Here is what each test involves.

  • Cheek swab. A healthcare team member collects tissue from the inside of your cheek and sends it to the lab for testing. The test is painless, requires no numbing medication, and causes no side effects.
  • Blood sample. Your healthcare provider draws blood from your vein using a needle. The blood sample is taken for newborn screening by pricking the baby’s heel.
  • Chorionic villus sampling. This invasive test involves taking a tissue sample from the placenta. For this genetic testing, your doctor may use a catheter and thin needle to collect the sample through your abdominal walls, cervix, or uterus.
  • Amniocentesis. For this test, your doctor inserts a thin hollow needle into your uterus to collect a small amount of amniotic fluid for testing. This test is invasive and there is a risk of miscarriage.

How long it takes to get the results depends on the type of genetic test you had and your health care facility.

If you have any questions about genetic testing, consult your doctor at the Center for Reproductive Medicine.