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Florida Newborn
Screening Program - Disorders
Disorders:
The disorder list was based
upon proposals from both the
2002 Infant Screening Task Force,
the
American College of
Medical Genetics, and the 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 (all links open in new windows):
|
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) |
Download a copy of the disorder list with panel recommendations.
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