Our division serves as the regional center for referral of newborns identified through neonatal blood spot screening who have a presumptive diagnosis of an inborn error of metabolism.
Florida screens every newborn for more than 35 inherited metabolic and/or genetic conditions. Education resources and links related to our activities are listed below.
State and national newborn screening programs and related sites
- 2012 Florida Newborn Screening Guidelines
- State of Florida NBS site
- New England Consortium of Metabolic Programs
- ACMG Action Sheets and Algorithms
- Genetics Home Reference NIH
- UF Genetics and Metabolism NBS Website (Authorized users only – login required)