Pediatric Genetics and Metabolism

For referring physicians

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.

Our mission is to provide comprehensive clinical care and diagnostic genetic services to children referred for genetic disorders evaluation. Our team of skilled health professionals and medical genetics instructors also strive to impart our clinical knowledge and experience to students and residents at all levels of their training. We are also active in clinical and molecular-based genetics research.

Faculty and staff include pediatric physicians, genetic counselors and metabolic nutritionists with expertise in clinical medicine and the science of metabolism and molecular genetics.

Genetics and metabolism services at BOB体育 Shands Children's Hospital

Conditions we treat and consultations we provide for 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 pediatric genetic disorders

Genetic counseling to help families understand:

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

Special consultation programs and services

Craniofacial Clinic, Gainesville
Lysosomal storage disease program
Phenylketonuria (PKU) treatment program, Gainesville
Telemedicine consultation
Outreach clinics

Statewide programs

- Every newborn born in Florida is screened for more than 35 inherited metabolic and/or genetic conditions.
- Satellite clinics in Pensacola and Tallahassee
- State of Florida-funded developmental disabilities program

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