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Florida Newborn Screening Program - Disorders

Disorders:

The disorder list was based upon proposals from both the 2002 Infant Screening Task ForceLink opens in a new window (PDF 439 kb) and the American College of Medical GeneticsLink opens in a new window.

The Department of Health currently screens all babies born in Florida for the following disorders (all links open in new windows):

Disorder

ACT Sheets

PKU (Phenylketonuria)Link opens in a new window

ACT SheetLink opens in a new window

CAH (Congenital adrenal hyperplasia)Link opens in a new window

ACT SheetLink opens in a new window

Congenital hypothyroidism

ACT SheetLink opens in a new window
 ACT SheetLink opens in a new window

Galactosemia (G/G)

ACT SheetLink opens in a new window
 ACT SheetLink opens in a new window

Hb S/Beta-thalassemiaLink opens in a new window

ACT SheetLink opens in a new window

HB S/C diseaseLink opens in a new window

ACT SheetLink opens in a new window

Sickle cell anemia Link opens in a new window

ACT SheetLink opens in a new window

Hearing lossLink opens in a new window

ACT SheetLink opens in a new window

3MCC (3-Methylcrotonyl-CoA carboxylase deficiency)Link opens in a new window

ACT SheetLink opens in a new window

3-OH 3-CH3 glutaric aciduria

ACT SheetLink opens in a new window

Arginosuccinic acidemiaLink opens in a new window

ACT SheetLink opens in a new window

Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiencyLink opens in a new window

ACT SheetLink opens in a new window

Biotinidase deficiency

ACT SheetLink opens in a new window

CitrullinemiaLink opens in a new window

ACT SheetLink opens in a new window

Glutaric acidemia type ILink opens in a new window

ACT SheetLink opens in a new window

HomocystinuriaLink opens in a new window

ACT SheetLink opens in a new window

Isovaleric acidemiaLink opens in a new window

ACT SheetLink opens in a new window

LCHAD (Long-chain L-3-OH acyl-CoA dehydrogenase deficiency)Link opens in a new window

ACT SheetLink opens in a new window

Maple syrup urine diseaseLink opens in a new window

ACT SheetLink opens in a new window

MCAD (Medium chain acyl-CoA dehydrogenase deficiency)Link opens in a new window

ACT SheetLink opens in a new window

Methylmalonic acidemiaLink opens in a new window

ACT SheetLink opens in a new window

Propionic acidemia

ACT SheetLink opens in a new window

Tyrosinemia type ILink opens in a new window

ACT SheetLink opens in a new window

VLCAD (Very long-chain acyl-CoA dehydrogenase deficiency)Link opens in a new window

ACT SheetLink opens in a new window

Carnitine/Acylcarnitine translocase deficiencyLink opens in a new window

ACT SheetLink opens in a new window

Carnitine palmityl transferase deficiency type ILink opens in a new window

ACT SheetLink opens in a new window

Carnitine palmityl transferase deficiency type IILink opens in a new window

ACT SheetLink opens in a new window

Multiple acyl-CoA dehydrogenase deficiencyLink opens in a new window

ACT SheetLink opens in a new window

SCAD (Short chain acyl-CoA dehydrogenase deficiency)Link opens in a new window

ACT SheetLink opens in a new window

Tyrosinemia type II

ACT SheetLink opens in a new window

Carnitine uptake defectLink opens in a new window

ACT SheetLink opens in a new window

Methylmalonic acidemia (mutase deficiency)Link opens in a new window

ACT SheetLink opens in a new window

Multiple carboxylase deficiency

ACT SheetLink opens in a new window

Trifunctional protein deficiencyLink opens in a new window

ACT SheetLink opens in a new window

Cystic FibrosisLink opens in a new window

ACT SheetLink opens in a new window



Download a copy of the disorder list with panel recommendations.Link opens in a new window (doc 90 kb)