Pediatric Genetics & Metabolism
Your child’s genes are responsible for more than those shining eyes and that adorable smile. They also influence growth, development and health. Changes to genetic material (DNA) can disrupt normal growth and development, causing a variety of health problems.
Genetic disorders may be caused by:
- A single mutated gene that’s been passed down through a family;
- A new, spontaneous mutation (no family history); or
- A combination of environmental factors and inherited mutations in multiple genes.
At UNC Children’s, you’ll find expert diagnosis, effective management, and compassionate counseling for genetic disorders. Our team includes certified genetic counselors and pediatricians with advanced training in genetics. We’ll help you understand complex genetic information, so you can make informed choices for your family’s health care.
Starting Out Right
UNC Genetics and Metabolism provides comprehensive follow-up for Metabolic Newborn Screening for infants born in the state of North Carolina. These follow-up services begin with contacting primary care providers and birthing centers to review abnormal results of newborn screening and make recommendations for additional testing for infants. The providers at UNC Genetics and Metabolism continue to work with local providers to review results of recommended testing and coordinate appointments with Metabolic Specialists at UNC and other specialty clinics in North Carolina. Metabolic specialists (doctors, nurse practitioners and dietitians) at UNC speak with families to coordinate care and to ensure all questions are answered before, during, and after their clinic visits. During our clinic visits, families are provided with extensive education about their child’s diagnosis and management. Our providers offer close follow-up during infancy, through childhood and into adulthood for many disorders, establishing long-term relationships with patients and their families.
Does My Child Need a Genetic Evaluation?
Your child may benefit from a genetic evaluation if s/he or another family member experiences any of the following:
- Autism spectrum disorder (ASD) – A neurological and developmental disorder that affects interactions, communication and learning
- Chromosomal disorders, including Down syndrome, Prader-Willi syndrome, Turner syndrome, or Angelman syndrome
- Congenital abnormalities – Physical differences present at birth; sometimes called birth defects
- Hearing or vision loss
- Inborn errors of metabolism – Inherited conditions that affect the body’s ability to turn food into energy; includes phenylketonuria (PKU) and the mucopolysaccharidoses (MPS)
- Intellectual disability – Chronic disability characterized by significantly slow learning and development
- Monogenetic disorders – Conditions caused by a single mutated gene, such as sickle cell disease, cystic fibrosis, Tay-Sachs disease, Marfan syndrome and Huntington disease
- Short stature – Height that is significantly shorter than that of children of the same age and sex
Answers & Support
Providing Answers & Support
If you’re concerned that your child may have a genetic disorder, a genetic evaluation can be part of your search for answers. A correct diagnosis is the first step in effectively managing the condition, so your child can reach his or her fullest potential. Your genetic evaluation and counseling session at UNC Children’s is designed to:
- Confirm, diagnose, or rule out a genetic condition
- Help you understand the disorder as well as how it affects your child and your family
- Share recommendations for management
- Determine if other relatives are at risk for the disorder
- Provide family support
- Offer referrals to other specialists or community services
Pioneers in Detecting Inherited Metabolic Conditions
Every day, thousands of newborn babies are routinely screened for inherited metabolic conditions. If your baby has a positive result from his or her screening, get prompt follow-up care at UNC Children’s.
You can trust that we’re experts, because we helped develop the technology used in newborn screenings across the country, and we coordinate follow-up care for the majority of babies with a positive screening result in North Carolina.