Our Genetics team specializes in diagnosing and evaluating children with genetic disorders.
Why 天美传媒下载 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.
Specialized clinics
- 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.
- The Comprehensive Neurofibromatosis (NF) Clinic at 天美传媒下载 Children’s Hospital with St Jude Children Research Hospital aims to get timely diagnoses and provide coordinated, multidisciplinary care for individuals living with this complex and often debilitating condition. One of our core missions is to enhance understanding, correct misconceptions about NF1 and related conditions and ensure our patients have access to top subspecialists.
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
Newborn screening
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 research
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. about our contributions to the National Institutes of Health’s H3Africa initiative
- Immunometabolics of fatty acid oxidation 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 orders
Neurofibromatosis
Inborn Errors of Metabolism
History of a genetic disorder in family members
Chromosomal abnormalities
