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
Consultations and Genetic Testing
A consultation can be done with our physician on call by contacting the Carolina Consultation Center at (800) 862-6264. Ask for the Pediatric Geneticist on call if the question is about a general genetics problem, but please request the person on-call for the Metabolic service if the patient has or may have an inborn error of metabolism. If there is an urgent appointment need, the on-call physician can triage these requests. In many cases, genetic testing can be ordered/completed by the primary care provider prior to the patient's appointment. Primary care physicians are encouraged to contact the Carolina Consultation Center with any questions about genetic testing that can be completed prior to the patient’s appointment slot or call our office at 919-966-4202.
Diagnosis Specific Referral Information
Marfan Syndrome Referrals
Marfan syndrome is a genetic connective tissue disorder that primarily affects the skeleton, the heart and the eyes. Skeletal features include a pectus carinatum or excavatum, reduced upper to lower segment ratio, armspan to height ratio >1.05, scoliosis, joint hypermobility, positive thumb and wrist signs, and flat feet. The major problem in the cardiovascular system is dilation of the ascending aorta, which may be progressive and lead to aortic dissection. The most common complication involving the eyes is lens subluxation (lens dislocation). Additional information is available through the Marfan Foundation.
The diagnosis of Marfan syndrome relies on a set of defined clinical criteria developed to facilitate accurate recognition of the syndrome and improve patient management and counseling. The new diagnostic criteria places more weight on the cardiovascular manifestations and ophthalmologic manifestation, with aortic root aneurysm and dislocated lenses being cardinal features. Therefore, our clinic requires an echocardiogram and ophthalmologic evaluation to be completed PRIOR to the child's genetic visit, as the data collected from these specialties will guide our assessment and help to determine whether genetic testing is warranted. These evaluations can be completed locally and we ask that the referring provider or pediatrician coordinate these referrals prior to the child’s appointment. Please fax these records to (919) 966-3025.
Ehlers Danlos Syndrome Referrals
Ehlers Danlos syndrome (EDS) is a specific group of genetic connective tissue disorders, characterized by joint hypermobility, skin extensibility and tissue fragility. There are different types of EDS that are classified according to their genetic and clinical findings. Features can vary from mildly loose joints to life-threatening complications associated with the vascular system. Hypermobile joints are generally unstable and prone to dislocation, chronic pain, and early-onset arthritis. Individuals with EDS often have soft, velvety skin that is highly elastic and fragile. These individuals also tend to bruise easily and may have abnormal scarring, such as the characteristic "cigarette paper" scars. The severe form, vascular EDS, can involve serious and potentially life-threatening complications such as an increased risk of blood vessel and organ ruptures. The potential for ruptures can also complicate pregnancy.
Ehlers-Danlos syndrome, hypermobility type (type III) is the most common form of EDS and is generally thought to be the least severe form of EDS, but can have significant musculoskeletal complications including autonomic dysfunction (postural orthostatic tachycardia syndrome) and functional bowel disorders. Major features include joint subluxations and dislocations that can happen spontaneously or with minor trauma, hyperextensibility, velvety skin, and easy bruising. Other common features include degenerative joint disease and chronic pain which are serious complications that can be both physically and psychologically disabling. Since the gene for hypermobile EDS has not been discovered, diagnosis is based on strict clinical criteria. Genetic testing is available for the other forms of EDS.
A referral to pediatric genetics for individuals under 18 years of age should be considered for the following:
- Recurrent subluxations and dislocations without trigger
- Generalized hypermobility of joints (Beighton score >5)
- Frequent fainting/diagnosed POTS
- Abnormal/atrophic scarring
- Spontaneous and/or recurrent pneumothoraces
- Aortic root dilatation with a Z score >+2
- Progressive scoliosis
- Unexplained striae at the back, groins, thighs, breast, and/or abdomen
- Personal or family history of arterial, intestinal, uterine, aortic, or other organ dissections and ruptures. Early death(s) in the family due to these complications.
Please note that referrals for hypermobile EDS (type III) for children under 6 years of age will be reviewed on an individual basis. Since the Beighton score is not validated for young children, we will deny referrals for which we are unable to provide appropriate clinical evaluation. For individuals 18 years of age and older, refer to the UNC Adult Genetic Team.
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