Newborn Screening

Florida currently screens every newborn for more that 35 inherited and/or genetic conditions. (click to view recent Division of Genetics' lecture on the Florida Newborn Screening program).

Galactosemia Protocols

• Galactosemia protocol for zero fluorescence result (PDF file)
• Duarte/G management recommendations (PDF file)
• Video/audio explanation of the D/G condition
• Galactosemia protocol for borderline result (PDF file)

Biotinidase Deficiency

• Video/audio: explanation of Biotinidase deficiency
  
• Video/audio: DNA mutation testing for

National links for NBS programs and metabolic sites

• State of Florida NBS site
• New England Consortium of Metabolic Programs
• ACMG Action Sheets and Algorithms
• Genetics Home Reference NIH
• Organic Acids Analytes and Disease Correlates
• Organic Acidemia Association
• Washington State NBS