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Clinical Genetics and Genomics

Group of multicultural children on seat together
Appointments (904) 633-0920

The UF Health Genetics and Genomics program provides inpatient consultation services at UF Health Jacksonville and comprehensive outpatient care through the UF Health Pediatric Multispecialty Center – Prudential Drive.

Expertise in genetic conditions

Our team evaluates and manages children and adults with known or suspected genetic conditions and works closely with primary care providers, pediatric subspecialists and community partners to coordinate comprehensive care.

Patients may be referred for evaluation of:

  • Autism spectrum disorder and neurodevelopmental concerns
  • Birth defects and congenital anomalies
  • Connective tissue disorders
  • Developmental delay or intellectual disability
  • Family history of a known genetic condition
  • Growth disorders and short stature
  • Inherited metabolic or genetic syndromes
  • Learning, behavioral or neurological conditions with a suspected genetic basis
  • Prenatal or preconception genetic concerns
  • Unexplained medical conditions where a genetic cause is suspected

Areas of Clinical Expertise

The clinical team has specialized expertise in the evaluation and management of:

  • Connective tissue disorders, including Ehlers-Danlos syndromes, Marfan syndrome, thoracic aortic aneurysm syndromes, and osteogenesis imperfecta
  • Genomic testing and precision medicine applications
  • Neurocutaneous syndromes, including Neurofibromatosis Type 1 (NF1), Neurofibromatosis Type 2 (NF2), Schwannomatosis, Tuberous Sclerosis Complex, and Von Hippel-Lindau Syndrome
  • Noonan syndrome and related RASopathies
  • Rare and undiagnosed genetic disorders

Excellence in services offered

Our team of professionals provide the following services:

  • Comprehensive genetic evaluation and diagnosis
  • Coordination and interpretation of genetic and genomic testing
  • Coordination with primary care and specialty providers
  • Family education to support informed healthcare decisions
  • Genetic counseling for patients and families
  • Ongoing care management and follow-up
  • Referral to community resources, support services, and advocacy organizations
  • Risk assessment and recurrence counseling

The Neurofibromatosis Program at UF Health Jacksonville

The Neurofibromatosis Program at UF Health Jacksonville provides comprehensive care for both children and adults with neurofibromatosis. We provide exceptional medical care while supporting patients and their families through the emotional and social aspects of their diagnosis. As a member of the Children’s Tumor Foundation NF Clinic Network, our team is committed to providing expert care focusing on diagnosis, education, management, and counseling.

Neurofibromatosis is a genetic disorder of the nervous system that causes tumors to grow on nerve tissue. The clinic specializes in managing three types of neurofibromatosis.

  • Neurofibromatosis type 1 (NF1)
  • Neurofibromatosis type 2 (NF2), or NF2-related schwannomatosis
  • Schwannomatosis

Our clinical team includes a clinical geneticist, certified nurse practitioners, and genetic counselors. We offer care coordination with multiple specialists and assist pediatric patients transitioning to adult health care, ensuring they have a multidisciplinary care team throughout their lives.

How You Can Help

Advancing care for children and adults with genetic and genomic conditions requires collaboration among healthcare providers, researchers, community partners, advocates, and families. Your support helps us expand access to specialized services, advance research, educate future healthcare professionals, and improve the lives of children and families affected by genetic conditions.

Support Our Mission

The division of genetics and genomics is dedicated to providing comprehensive, family-centered care while advancing education, research, and innovation in genomic medicine.

Contributions may help support:

  • Patient and family education programs
  • Community outreach and awareness initiatives
  • Clinical research and quality improvement projects
  • Provider and trainee education
  • Development of innovative genetic and genomic services
  • Resources that improve access to care for children and adults with rare and complex conditions

Partner With Us

We welcome opportunities to collaborate with:

  • Community organizations
  • Patient advocacy groups
  • Healthcare providers
  • Educational institutions
  • Philanthropic organizations
  • Research partners

Together, we can improve access to genetic services, advance scientific discovery, and support children and families navigating genetic and genomic conditions.

Contact Us

Whether you are seeking an appointment, have questions about genetic testing, need assistance with a referral, or would like additional information about our services, our team is here to support you. We are committed to providing compassionate guidance and helping patients, families, and healthcare providers navigate the complexities of genetic and genomic care.

We welcome inquiries from families, referring providers, community partners, and organizations interested in learning more about the division of genetics and genomics. Please contact us at, (904) 633-0920 and a member of our team will be happy to assist you.

Our experts

Independent doctors are not employed by UF Health, but may provide medical care at one of our locations.

Our locations

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