Pediatric Genetics

Pediatric Genetics is a consultative service that provides clinical evaluation, diagnostic testing, genetic counseling, and collaborative medical management for patients with known or suspected genetic conditions. Common referrals include birth defects, learning or behavior concerns, problems with growth, family history of known genetic conditions, or concerns about a specific genetic condition. UF Health Jacksonville offers a pediatric genetics program that provides both inpatient and outpatient services at UF Health Jacksonville and Wolfson Children’s Hospital. Within our outpatient UF Health Pediatric Multispecialty Center, comprehensive and compassionate care management is provided to children and families who may be referred for the following genetic conditions:

• Birth defects and congenital anomalies
• Learning or behavior concerns
• Problems with growth or development
• Family history of known genetic conditions, or concerns about a specific genetic condition

Utilizing the latest genetic information technology and cutting-edge diagnostics, we have special expertise in neurocutaneous syndromes (NF1, NF2, Schwannomatosis, tuberous sclerosis complex, Von-Hippel Lindau syndrome), Noonan syndrome and related disorders, and connective tissue disorders (Ehlers-Danlos syndromes, Marfan syndrome, thoracic aortic aneurysm syndromes, osteogenesis imperfecta).

Services

The following services are available:

• Evaluation and diagnosis
• Coordination of genetic testing
• Genetic counseling and education to help families understand and manage their child’s condition effectively
• Follow-up care and referral to additional resources