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The Florida Department of Health works to protect, promote & improve the health of all people in Florida through integrated state, county, & community efforts.

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Contact the Newborn Screening Program

Per Florida Statute 383.14 (5) the Genetics and Newborn Screening Advisory Council recommends the conditions for which testing should be included under the screening program.  Florida Newborn Screening Program screens for all 31 core conditions and 22 secondary conditions (a total of 53 conditions), 50 of which are included in the Recommended Uniform Screening Panel that is recommended by the US Department of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children.

The ACMG developed an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and 2) an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant. These sheets can be found on the ACMG website-Newborn Screening ACT Sheets and Confirmatory Algorithms.

The Department of Health currently screens all babies born in Florida for the following disorders.

Disorders

  • PKU (Phenylketonuria)
  • CAH (Congenital adrenal hyperplasia)
  • Congenital hypothyroidism
  • Galactosemia (G/G)
  • Hb S/Beta-thalassemia
  • HB S/C disease
  • Sickle cell anemia
  • Hearing loss
  • 3MCC (3-Methylcrotonyl-CoA carboxylase deficiency)
  • 3-OH 3-CH3 glutaric aciduria
  • Arginosuccinic acidemia
  • Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency
  • Biotinidase deficiency
  • Citrullinemia
  • Glutaric acidemia type I
  • Homocystinuria
  • Isovaleric acidemia
  • LCHAD (Long-chain L-3-OH acyl-CoA dehydrogenase deficiency)
  • Maple syrup urine disease
  • MCAD (Medium chain acyl-CoA dehydrogenase deficiency)
  • Methylmalonic acidemia
  • Propionic acidemia
  • Tyrosinemia type I
  • VLCAD (Very long-chain acyl-CoA dehydrogenase deficiency)
  • Carnitine/Acylcarnitine translocase deficiency
  • Carnitine palmityl transferase deficiency type I
  • Carnitine palmityl transferase deficiency type II
  • Multiple acyl-CoA dehydrogenase deficiency
  • SCAD (Short chain acyl-CoA dehydrogenase deficiency)
  • Tyrosinemia type II
  • Carnitine uptake defect
  • Methylmalonic acidemia (mutase deficiency)
  • Multiple carboxylase deficiency
  • Trifunctional protein deficiency
  • Cystic Fibrosis
  • Severe Combined Immunodeficiency (SCID)
  • Critical Congenital Heart Disease (CCHD)
Download a copy of the disorder list.

*Note: This page contains materials in the Portable Document Format (PDF). The free Adobe Reader may be required to view these files.