Newborn Screening

Our division serves as the regional center for referral of newborn babies, identified through neonatal blood spot screening, who have a presumptive diagnosis of an inborn error or metabolism. Florida screens every newborn for more that 35 inherited metabolic and/or genetic conditions. Education resources and links related to our activities are listed below.

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. Also, click her to view PDF file.
  
• Video/audio: DNA mutation testing for. Also, click her to view PDF file.
   -Take the biotinidase quiz
  

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