Genetic FAQs Hero

Genetic FAQs

I/We have been referred for genetic counseling and/or a genetic evaluation. Why would genetics be involved in our care and what can we expect?

Genetic counseling is provided by licensed genetic counselors under the supervision of a medical clinical geneticist. Genetic counselors are healthcare professionals with a Master’s degree who specialize in taking family medical histories, assessing risks for genetic disease based on those histories, informing patients about various genetic testing options and their limitations, educating patients about genetic test results, and providing support and resources as needed.

A medical geneticist is a consulting physician boarded in clinical genetic medicine and a primary care specialty. Medical geneticists specialize in the evaluation, diagnosis, management, and treatment of patients of all ages with a variety of conditions that are genetically-influenced. At times, medical geneticists are called upon to determine the impact of environmental exposures on physical and/or neurobehavioral development.

Referring physicians may recommend genetic counseling or a genetic evaluation for a variety of reasons, however, the goal is ultimately to ensure an accurate diagnosis is made and proper anticipatory management and potential treatment options are offered. While not a comprehensive list, some of the indications for referral include:

  • abnormal fetal ultrasound findings
  • abnormal newborn screening
  • birth defect(s)
  • suspected inborn error of metabolism
  • growth disturbance (e.g. failure-to-thrive, short stature, tall stature, overgrowth)
  • developmental delays
  • autism spectrum
  • chromosomal differences
  • recently diagnosed genetic condition
  • hearing or vision loss
  • unusual skin findings
  • personal or family history of cancer, cardiac problems, kidney abnormalities, neuromuscular disorders

Your specific reason for referral to genetics will determine who you will meet with. In general, you can expect questions regarding personal and family medical histories, a complete physical examination if referred for evaluation, discussion of potential diagnoses and management recommendations and possible treatment if seen by the geneticist, and counseling regarding further testing options. Many of our patients additionally meet with our metabolic nutritionist. Depending on insurance, phlebotomy for specialized testing may be performed by our highly skilled nursing staff. Please call us for more information if you have questions regarding your specific referral.

What is the Genetic Newborn Screening?

Can genetic testing be performed without meeting with a genetic counselor first?

At Saint Peter’s we feel very strongly about educating patients before proceeding with any studies. It is important for patients to understand the limitations of available testing and to ensure that the most appropriate testing is being ordered.  We can only coordinate testing for our established patients. Our genetic nurses are able to collect specimens after the appropriate counseling and consents are completed here with our staff.  You may wish to check with your primary care physician or insurance company for laboratory options if you do not wish to have counseling or a complete consultation with us.

What is a Genetic Counselor?

What is the turnaround time for test results?

  • Result time for genetic testing varies. Factors include:
    • The specific tests ordered and if they were ordered in conjunction with other studies, such as radiology
    • The shipping time for the sample to arrive at the specialty lab
    • The processing time for that specialty lab to run the requested testing
    • The careful analysis done by the medical geneticist to determine an appropriate and individualized plan-of-care per case
  • Clinical staff members are required to discuss that plan-of-care with the patient once results are reviewed by the physician.
  • Copies of the results will be provided through the patient portal.

Why should I know my family medical history?

Will my visit and/or testing be covered by my insurance?

Insurance plans and the services they cover vary widely. Even within seemingly similar plans, the deductibles, copayments and out-of-pocket expenses can vary dramatically. We recommend calling your insurance company prior to seeing our providers to determine your insurance status. We can often help by providing codes for the anticipated services. If you are a new patient, your referring provider will supply the diagnosis code. The following information may be useful when calling your insurance regarding initial coverage and/or creating referrals:

  • Saint Peter’s University Hospital Tax ID#: 221487330
  • Saint Peter’s University Hospital NPI#: 1114924834
  • NPI numbers for individual clinical providers are located in their profiles on our Meet the Staff page.
  • CPT code for genetic counseling: 96040

The financial responsibility of any recommended study will be discussed at the time of your visit. While we cannot guarantee that these attempts will meet full coverage, we will assist our patients by preparing a letter, or statement of medical necessity, and provide the information necessary to obtain pre-authorization or pre-determination as needed. Your insurance company will have final determination as to whether a service is covered. Some specialty labs will contact patients directly to establish financial responsibility based upon demonstrated financial need. Patients can decline studies at any time.

What makes the Department of Medical Genetics and Genomic Medicine at Saint Peter’s different from other locations that offer genetic services?

We have spent over 25 years building and refining our provision of genetics and ancillary services to best serve our patient needs. Our vision is always forward-looking and focused on enhancing patient care while providing the most comprehensive and cutting-edge services, testing, and treatment possible.

Our staff includes physicians, nurses, genetic counselors, a dedicated metabolic nutritionist and several support staff to ensure each patient’s unique case is handled smoothly from the time of their initial call for an appointment, to seeing our clinical staff team, to billing and then coordinating follow-up, as needed. A specific plan-of-care is established in concert with the patient and their caregivers that ensures all questions are answered, all concerns are addressed, and their management is established.

The department is actively involved in the education and training of medical professionals, students, and the community at large as we work closely with the New Jersey State Department of Health. All services are provided on-site at Saint Peter’s University Hospital. We are proud to share that we pioneered a telemedicine program, which led us to become the first hospital-based telegenetic service provider in New Jersey.

Click here to Meet our Staff

Contact Us:

The Department of Medical Genetics and Genomic Medicine
Our office hours:  8:00 AM – 4:30 PM, Monday through Friday
Phone: 732.745.6659  FAX: 732.249.2687
For new appointments, please call 732.339.7481

Subscribe to Our Newsletter

Subscribe to the Saint Peter's Better Health newsletter and receive the latest health news, community events, recipes, and more.

Support Saint Peter’s

Your gift of any size directly impacts the patients who are cared for at Saint Peter's. Donate TodayLearn More