A genetics evaluation may help guide how your doctors take care of you, now or in the future. It may also provide important information for your family members. As a result of your evaluation, we may:

  • Diagnose or “rule out” a genetic condition in you and/or your family
  • Explain the condition and its symptoms
  • Recommend changes to your medical care
  • Determine who in your family may be at risk
  • Help you find resources and support
  • Connect you with other people who have the same condition or symptoms
  • Help you find research studies that you might be eligible for

We will start by asking about your medical and family history. Based on this, we will tell you whether there might be a risk for a genetic condition in you or your family. Sometimes genetic testing or other testing is recommended, but not always. Most blood tests can be done even if you have been eating or drinking before your visit.

Your appointment will be more helpful to you if we have your medical records before we meet with you. If you have had your medical care within the UNC system, we are usually able to see those records. If you have had your medical care outside of UNC, all related records should be faxed to us at 919-966-4151 before your appointment.

It is also important to ask your relatives if they have had any related genetic testing. Please fax or email a copy of their test results to us before your appointment, or bring a copy with you to your appointment. This will help make sure that you get the best genetic testing. If you share a relative’s results with us, please make sure to include your name and how you are related to the person who had testing.

We also encourage you to bring a list of specific questions you have.

Ask your family about their health history before your appointment. We will ask for health information about your children, brothers, sisters, parents, aunts, uncles, nieces, nephews, cousins, and grandparents. It can be helpful to write this information down before your appointment and bring a copy of it with you.

You should collect the following information:

  • Who in your family has similar symptoms to you and about how old they were when those symptoms started
  • Who in your family has been diagnosed with any genetic condition, the name of the condition, and about how old your relative was when he or she was diagnosed
  • Approximate ages of your living relatives
  • Ages at which relatives died and cause of death
  • Your ancestry on both sides of the family (for example: English, African-American, Lumbee, Jewish)