Our Genetics team specializes in diagnosing and evaluating children with genetic disorders.
Some of the conditions we evaluate:
- Birth defects and distinctive facial features
- Developmental delay
- Poor weight gain and growth
- Multiple miscarriages or fetal loss
- Connective tissue disorders
- Inborn Errors of Metabolism
- History of a genetic disorder in family members
- Chromosomal abnormalities
Why Le Bonheur Children’s?
- Our specially trained genetic physicians and counselors work with families to learn more about a genetic diagnosis and family members’ likelihood of inheriting a certain condition. They help families make informed decisions about genetic testing and treatment.
- We are a member of the Pediatric Laboratory Utilization Guidance Services (PLUGS), a national network of laboratories and hospitals committed to responsible use and maximizing the benefit of genetic testing for patients.
Inborn Errors of Metabolism Clinic
Individualized multidisciplinary treatment by geneticists, dietitians and social workers for children with fatty acid oxidation disorders, organic acidopathies, urea cycle disorders, phenylketonuria (PKU) and others.
Timely diagnosis and multidisciplinary treatment for wide-ranging complications of neurofibromatosis and other neurocutaneous disorders, such as Tuberous Sclerosis Complex, Neurofibromatosis Type 2 and Gorlin syndrome. Our clinic closely collaborates with the Cancer Predisposition Clinic at St. Jude Children’s Research Center, and patients are enrolled in national clinical trials when appropriate.
Therapies and evaluation
Our team offers a variety of genetic screenings and treatment, including:
- three-generation family history
- extensive patient medical history review
- detailed physical exam
- recommendation of appropriate laboratory and other diagnostic evaluations
- recommendation for additional specialist involvement
- genetic counseling
- infusion therapies
- medication and dietary management of children with inborn errors of metabolism
Our geneticists provide services for the State of Tennessee Newborn Screening Follow-up Program. Before parents take their newborns home from the hospital, geneticists perform testing for rare disorders. These screenings are important because they detect chemical changes before problems develop. Your child's pediatrician will be notified of the results. Generally parents are only notified if repeat or additional testing is needed.
Our team is committed to finding new and better ways to treat genetic disorders. Our current research focuses include:
- Genetic factors of obesity and metabolism
- Genomic factors that influence HIV and tuberculosis progression in African children. Learn more about our contributions to the National Institutes of Health’s H3Africa initiative
- Immunometabolics of fatty acid oxidation disorders
Resources for families