The thought that lying somewhere in your genes is the answer to whether or not you will develop a serious life-threatening condition can be nerve-wracking. But thanks to advancements in medical testing, Levine Children's Hospital in Charlotte, NC can now help families learn about conditions before any symptoms arise. This can help them understand, prepare and determine treatment options earlier than ever before. Many families have questions about the purpose of this visit.
A: You may be referred for a genetic evaluation for a variety of reasons. Your doctor may be concerned that there is a genetic explanation for you or your child’s symptoms. These symptoms might include developmental delays, learning issues, autism, growth problems, abnormal test results or birth defects such as a heart defect or a cleft lip/palate.
A: Your genetic evaluation will begin with a meeting with a genetic counselor to discuss the reason for referral, concerns you have for you or your child, and any relevant family and medical history. Then, the medical geneticist will perform a physical exam and the genetics team will discuss with you and your family the possible diagnosis and recommendations.
A: The geneticist will evaluate your child from head to toe and may take many measurements, looking for any clues that may provide an explanation for you or your child’s symptoms.
A: If testing is recommended, there may be a blood draw during your visit. Certain biochemical tests (thyroid, CBC, etc.) might be drawn during the visit. If DNA testing is recommended, preauthorization through your insurance or Medicaid is required. Once a test has been preauthorized, we will contact you to schedule a time to return to clinic for a blood draw. Your child does not need to be fasting.
A: You will be notified of the results in one of two ways. If results are not diagnostic (no problem found), a letter will be sent to you summarizing the test results. You will also receive a copy of the test results. If results are diagnostic (show a problem), we will call you to discuss the test results. We are available to discuss these results in person.
A: A diagnosis will enable preventative medical care, up-to-date information and networking, and access to services (early intervention, etc.). A diagnosis allows us to more accurately predict the chances of this condition happening again in your family. It might also help your child’s teachers educate, based on learning strengths and weaknesses that are typical for certain conditions.
A: If your child already has a diagnosis, we will discuss how this condition is inherited and the chances of it happening again, and we will review management and healthcare guidelines for this condition. If any further testing is available that may be helpful for you, your child or other family members, we can discuss this during the appointment.
A: Learn as much as you can about your family medical history, at least three generations back. Relevant information may include:
A: Please bring available copies of records from any other doctors or specialists that either you or your child has seen in the past. It is important to know the names of those physicians/doctors, when you saw them last and, if applicable, when you will see them for a follow-up appointment. Also, please bring a copy of any previous genetic testing (for example, a chromosome analysis, DNA testing or metabolic testing).
A: The genetic counselor will be your point of contact before, during and after your genetics clinic visit.
A: We understand our next available appointment may be further in the future than you may have anticipated. If you or your child’s physician feel your child needs to be seen sooner, please have the referring physician contact our office. We will work on seeing your child in clinic as soon as possible.
If you have any additional questions, please contact our office at 704-381-6810.