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What to Expect

Most people — adults and children — visiting our clinics will have their appointments in the Johns Hopkins Rubenstein Pediatric Outpatient Building.

sequencing

When you arrive, you’ll check in and nurses or nursing assistants will record your vital measurements, such as blood pressure, height, weight, etc. Then, clinic coordinators will bring you from the waiting room to an exam room in our clinic. Next, a genetic counselor or resident, who is a physician doing additional training in genetics, will review your medical history with you. This is similar to any other doctor’s appointment. They will also do an extensive review of your family’s medical history. Our visits include a standard physical exam. Most visits in our clinics last about one to two hours. Our team of experts will work with you to decide the tests and evaluations, including genetic testing and imaging studies, that may be helpful in making a diagnosis and developing a treatment plan for you.

Genetic Testing

If your medical team recommends genetic testing, it can be ordered the day of your clinic visit, depending on your insurance coverage. Genetic testing is done at our clinic by collecting blood, saliva or a cheek swab. The type of sample depends on the testing being performed. Results from genetic testing are available to our experts within one to 12 weeks, with most taking about 6-8 weeks. These tests are performed at our on-site genetics laboratory, Johns Hopkins Genomics, our Cytogenetics Laboratory or Kennedy Krieger Institute’s cytogenetics and biochemical genetics laboratory, as well as many other industry-leading laboratories.

Our team may recommend other tests to help make a diagnosis. The most common tests ordered are ultrasounds of the heart (echocardiogram) or kidneys (renal), and X-rays of multiple bones, called a skeletal survey.

Follow-Up Visits and Treatment Planning

At your next visit, our experts will review your test results, what the results means for you, your family, and your health and will make recommendations for additional medical specialists, procedures, treatments and tests.
Generally, our team recommends follow-up appointments every year to every two years. Follow-up appointments are important because the field of genetics is rapidly changing. New advances in genetic testing and new information about genetic conditions become available each year.

Coordination

Our team serves as the primary center of care for the evaluation and treatment of your genetic condition. We will work with your local primary care providers to make recommendations about all aspects of your medical care. You and your referring physician should receive a copy of a note summarizing your visit about two to three weeks after your appointment.