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Division of Genetics and Metabolism |
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Clinical Specialties
- Pediatric Genetics Clinic - provides consultation on children with multiple congenital anomalies, known genetic disorders, mental retardation and related disabilities, and families at risk for having a genetic disease
- Genetic counseling - for those at risk for having genetic diseases such as Muscular Dystrophy, Neurofibromatosis and Cystic Fibrosis. We also provide counseling and coordination for direct DNA gene testing
- Satellite clinics - as part of the Regional Genetics Program of the Children's Medical Services (CMS), these day-long clinics are held in Orlando, Pensacola, Panama City, Tallahassee, Rockledge, Daytona Beach, and Ocala
- Newborn infant screening - regional consultation and management for infants detected through the Florida Newborn Screening Program. This screening includes more that 30 inborn errors of metabolism, including hyperphenylalaninemia and galactosemia
- Chromosome laboratory - directorship of a full-service diagnostic chromosome laboratory. This lab performs chromosomal analysis for cancer prognostication, prenatal diagnosis, and evaluation of malformed and dysmorphic infants
- Infant Hearing Screening Program (CMS) involves the tracking of neonates with presumptive hearing loss
- Raymond C. Philips Research and Education Unit (State of Florida-funded program) provides special consultation programs and services targeted to mental retardation facilities
- Specialty clinics conducted by the division include: Cardiomyopathy (Gainesville), Center for Autism and Related Disabilities (Jacksonville), Craniofacial (Gainesville), Prader-Willi and Angelman syndrome programs (Gainesville), Phenylketonuria (PKU) treatment program (Gainesville) and Telemedicine consultation (Pensacola)
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