Genetics & Inherited Disorders

Planning Your Visit

If you are accepted into the DISCOVER program, you will be provided with a detailed itinerary outlining your visit. Our goal is to provide you with a comprehensive evaluation by multiple specialists in a single day or over several consecutive days.

You will be scheduled to meet with several members of the DISCOVER team including a doctor (a medical geneticist), genetic counselor, and, depending on you or your child’s needs, a social worker and nurse practitioner. We will also coordinate appointments with our world-class medical specialists and schedule any radiologic studies (MRI, CT, PET scan, ultrasound, or Xray studies), cardiac evaluations (echocardiogram, EKG, stress test), or other procedures needed to complete the comprehensive evaluation. In some cases, a brief hospitalization may be necessary if several studies are needed.

Within a month of your visit, a member of the DISCOVER team will contact you to discuss the results of the medical evaluations and studies (with the exception of genetic test results, which can take up to 5 months). We will ensure that you and your referring physician receive copies of all clinic notes and test results.

If we make a diagnosis, you will be asked to return for follow-up so that we can provide you with information about treatment options as well as resources for education and support. We will help you establish a medical team whose members can continue your ongoing care, and we will also discuss options to participate in research and to connect with other patients with the same diagnosis.

The Genetics Appointment

The genetics appointment will be central to your visit to the DISCOVER program. The goal of the genetics appointment will be to review the medical history in detail, answer questions, and determine your testing needs.  Because diagnosing a genetic condition can be complicated, your appointment will be scheduled for 90 minutes, but it could take longer depending on tesing needs.

At the beginning of the genetics visit, you will meet with the genetic counselor to review the patient’s medical history. The intake questionnaire that you completed before your visit will be used as an outline and can help expedite this process. The genetic counselor will also ask questions about your family history and draw a family tree, called a pedigree.

Next you will see the medical geneticist, who will ask more questions and perform a physical exam. Once the exam is completed,, the medical geneticist and genetic counselor will talk with you about testing options and follow-up recommendations. If you decide to have laboratory testing, it will be coordinated with any other blood or urine tests requested by other doctors and may involve obtaining blood or urine samples from the patient in addition to blood samples from other relatives who are at the visit.

Financial Issues

Clinical services provided through The DISCOVER Program will be billed to your insurance.

  • Our case management team will work with you and your insurance company to obtain preauthorization for any consultations, tests, or procedures.
  • Patients who do not have U.S. health insurance will need to pay for services out of pocket.
  • Any research studies will be free of charge.
  • There is no charge to submit medical records for evaluation in The DISCOVER Program.

International Patients

If you are traveling to The DISCOVER Program from outside the United States, NewYork-Presbyterian Hospital's Global Services team can provide you with an unparalleled level of customized service and personal attention, every step of the way. Each year, thousands of patients from around the world travel to NewYork-Presbyterian Hospital to receive medical care from our world-renowned physicians