Genetic FAQs

Your reason for referral will determine the type of appointment for which you will be scheduled. In general, you can expect a review of your personal and family medical histories. If the appointment is with our medical geneticist, a physical examination may be part of the visit. Discussion can include a review of genetics, inheritance, various testing options, potential diagnoses, management recommendations, and possible treatment options. Many of our patients meet with our metabolic dietician. 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.

In New Jersey, newborn screening has three components:

• A blood spot used for screening for early onset treatable disorders
• A hearing assessment
• Cardiac screening

In the case of a positive newborn screen from the blood spot, the state Department of Health will alert the newborn’s pediatrician and the state-designated newborn screening assessment program closest to the patient’s home address. We service families from all over the state, but most patients are from Middlesex and Somerset Counties. Newborns with confirmed hearing loss will also be referred to Genetics for further diagnostic testing.

Screening Tip:
Newborn screening is a public health service done in the first few days of life to identify babies who may have certain genetic, metabolic, or hormonal conditions. Early detection allows for prompt treatment to prevent serious health problems.

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.

A medical geneticist is a consulting physician boarded in clinical genetic medicine and a primary care specialty. They specialize in the evaluation, diagnosis, management, and treatment of patients with genetically influenced conditions.

A genetic counselor is a healthcare professional with a Master’s degree who helps individuals and families understand genetic conditions, assess risk, and make informed decisions about genetic testing and medical management.

Medical geneticist and a genetic counselor Tip:
Your specific reason for referral will determine who you will meet with.

Result time for genetic testing varies depending on several factors:

• The specific tests ordered and if they were ordered in conjunction with other studies
• 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 interpretation done by the medical geneticist
• If a Benefit Investigation is required by the insurance company
• If sample collection is completed outside of genetics department

Clinical staff members are required to discuss a plan-of-care with the patient once results are reviewed by the physician.

Copies of the results will be provided through the patient portal.

Your family medical history provides valuable information about potential genetic risks. Many health conditions have a genetic component, and knowing your family history helps healthcare providers assess your risk and recommend appropriate screening or preventive measures.

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.

Useful information when contacting your insurance:

• Saint Peter's University Hospital Tax ID#: 221487330
• Saint Peter's University Hospital NPI#: 1114924834
• CPT code for genetic counseling: 96041

The financial responsibility of any recommended study will be discussed at the time of your visit. We will assist our patients by preparing a letter of medical necessity and provide information for pre-authorization as needed.

Your insurance company will have final determination as to whether a service is covered. Patients can decline studies at any time.

Insurance Tip:
Many insurance plans cover genetic counseling when medically indicated. Our staff can help you verify your benefits before your appointment.

Common reasons for referral include:

• Abnormal fetal ultrasound findings
• Atypical growth patterns
• Autism spectrum
• Birth defect(s)
• Cardiomyopathy
• Chromosomal difference
• Developmental delays
• Epilepsy
• Family history of genetic conditions
• Hearing or vision loss
• Intellectual disability
• Personal or family history of cancer
• Suspected inborn error of metabolism
• Unusual skin findings

Your specific reason for referral will determine who you meet with. Expect questions about personal and family medical histories, a physical examination if needed, discussion of potential diagnoses, and counseling about testing options.