FIrst Medical Genetics Testing

What is Genetic Testing?

Genetic testing looks for changes, sometimes called mutations or variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for a genetic condition such as Fragile X or information about your risk to develop cancer. There are many different kinds of genetic tests. Genetic tests are done using a blood or spit sample and results are usually ready in a few weeks. Because we share DNA with our family members, if you are found to have a genetic change, your family members may have the same change. Genetic counseling before and after genetic testing can help make sure that you are the right person in your family to get a genetic test, you’re getting the right genetic test, and that you understand your results.

Reasons for Genetic Testing

  • Learn whether you have a condition that runs in your family before you have symptoms
  • To learn about the chance a current or future pregnancy will have a genetic condition
  • To diagnose a genetic condition if you or your child has symptoms
  • To understand and guide your cancer prevention or treatment plan


After learning more about genetic testing, you might decide it’s not right for you. Some reasons might be that it’s not relevant to you or won’t change your medical care, it’s too expensive, and the results may make you worried or anxious.