Appointments and Referrals

Patients will need a physician's referral to schedule an appointment. After a referral is made, patients can call (984) 974-1401 to schedule an appointment. For urgent appointments (as in the case of children under six months, new diagnosis, abnormal chromosome results or pregnant mother), the appointment desk will triage the inquiry to the division to see if an earlier appointment is possible or needed.  After a referral is made, medical records should be faxed to 919-966-3025.

For Angelman Syndrome appointments- visit the Carolina Institute for Developmental Disabilities website to schedule an appointment. 

For questions about the Prader-Willi Syndrome appointments, please call 919-966-9568 to speak with the clinic coordinator.

For appointment cancelations and rescheduling, please call (984) 974-1401 as soon as possible. 


Patients are referred to our clinic for a variety of metabolic and genetic problems. Patients will need a physician's referral to schedule an appointment. Physicians can refer a patient by calling (984) 974-1401 to provide referral information. Providers who have access to UNC CareLink may submit a referral request online. Please specify that the referral is for Pediatric Genetics. If you would like to request a UNC CareLink account, visit the UNC Carelink website and select "Request an Account." You may wish to download an overview of the referral portal or view a step-by-step guide on how to sign up. We do not accept faxed referrals. Once a referral is made, medical records, including any previous genetic testing, should be faxed to (919) 966-3025. Records are necessary and are reviewed prior to the clinic appointment.

Helpful Information to Provide with Referral

  • Reason for Referral
  • Specific parent/patient concerns
  • Has the patient or any family member ever been seen by Medical Genetics? If so, when, where, and why were they evaluated? Please provide records if available.
  • Has the patient or any family members ever had genetic testing? (examples: chromosome analysis, microarray, Fragile X testing, gene panels, whole exome sequencing). If so, please provide a copy of testing results or list the type of testing completed along with when and where testing was performed.
  • Has the patient ever had imaging related to the current referral? (MRI, ultrasound, X-rays, etc.). If so, please provide those records.
  • Pertinent clinic notes from other specialists

Referral Indications seen by other UNC Specialists (Not Seen in UNC Pediatric Genetics and Metabolism):

  • Cystic Fibrosis - Pediatric Pulmonary Care see patients with a cystic fibrosis referral. Please contact a member of their care team with questions at 919-966-1055.
  • Sickle Cell - Contact 800-476-6876 for sickle cell care
  • Prenatal Genetics - UNC Maternal-Fetal Medicine offers a variety of reproductive genetic services at N.C. Women’s Hospital, UNC Maternal-Fetal Medicine at Rex, and by telemedicine for anyone who is currently pregnant or considering pregnancy in the future. Please contact their office with any questions at 984-974-6094.
  • Cancer Genetics – The UNC Cancer Genetics team sees pediatric and adult patients with a personal or family history of cancer. Please contact a member of their team with any questions at 919-843-8724.
  • Adult Genetics – Unless otherwise indicated, individuals 18 years or older with a known or suspected genetic condition, should be referred to Adult Genetics. Please contact a member of their team with any questions at 919-843-8724.
  • Huntington disease and Alzheimer disease – The Hereditary Neurodegenerative clinic sees patients for predictive testing for Huntington disease, Alzheimer disease, and other neurodegenerative conditions. Please contact Adult Genetics with any questions at 919-843-8724.
  • Bleeding and clotting disorders – The UNC Hemophilia and Thrombosis Center providers comprehensive health care services, education, and research to patients with bleeding and clotting disorders including Hemophilia, von Willebrand disease, Factor V Leiden, Hereditary Hemochromatosis, Thrombophilia, Hereditary Hemorrhagic Telangiectasia (HHT), and other rare bleeding/clotting disorders. Please contact the center at (919) 966-4736 with questions.
  • Inherited retinal disorders– The UNC Kittner Eye Center and Ocular Oncology services at UNC see pediatric and adult patients with various retinal disorders. Please contact Adult Genetics with any questions at 919-843-8724.

Referral indications not seen by UNC Pediatric Genetics and Metabolism:

  • Direct to consumer testing
  • Pharmacogenetic testing
  • Paternity testing
  • Poor academic progress in an otherwise healthy child
  • ADHD/ADD in an otherwise healthy child

Ask For a Referral

You’ll need a physician’s referral for genetic testing and counseling. For more information, talk to your doctor or call us at 984-974-1401.

Related Locations