UF Health Pediatrics: Genetics & Metabolism

Our clinical and research programs evaluate and treat children with genetic disorders, including inborn errors of metabolism, congenital birth defects and many other rare genetic conditions.

Faculty and staff within the University of Florida Division of Genetics and Metabolism include pediatric physicians, counselors and nutritionists with expertise in the practice of clinical medicine and in the science of metabolism and molecular genetics.

Statewide programs

• Florida Newborn Screening Program - Every newborn born in Florida is screened for more than 35 inherited metabolic and/or genetic conditions.
• Children's Medical Services (CMS) Regional Genetics Program - Satellite clinics in Pensacola and Tallahassee
• Raymond C. Philips Research and Education Unit - State of Florida-funded developmental disabilities program

Genetics and metabolism services at UF Health Shands Children's Hospital

Consultation for evaluation of children with:

• Congenital malformations
• Inborn errors of metabolism
• Developmental disabilities and mental retardation conditions
• Neurogenetic disorders
• Chromosome abnormalities
• Teratogen exposures
• Rare genetic syndromes and other conditions

Genetic counseling, to help families understand:

• Risk for recurrence of a genetic condition
• Inheritance patterns and expected prognosis for a given genetic condition
• Availability of molecular testing and expected outcomes of testing

Special consultation programs and services

• Cardiomyopathy Clinic, Gainesville
• Craniofacial Clinic, Gainesville
• Cytogenetics Laboratory, Gainesville
• Prader-Willi Syndrome, Gainesville
• Angelman Syndrome, Gainesville 
• Phenylketonuria (PKU) treatment program, Gainesville
• Telemedicine consultation