Florida | Newborn Screening

Panel estatal de exámenes de recién nacidos

2-methyl-3-hydroxybutyric
2-methylbutyrylglycinuria
3-hydroxy-3-methylglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carbamoyl phosphate synthetase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase, type I
Carnitine palmitoyltransferase, type II
Carnitine uptake defect
Citrullinemia, type I
Citrullinemia, type II
Classic galactosemia
Classic phenylketonuria
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Ethylmalonic encephalopathy
Glutaric acidemia, type I
Glutaric acidemia, type II
Hearing loss or varying hearing levels
Holocarboxylase synthetase deficiency
Homocystinuria
Hypermethioninemia
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase deficiency
Methylmalonic acidemia (cobalamin conditions)
Methylmalonic acidemia (methylmalonyl-CoA mutase deficiency)
Methylmalonic acidemia with homocystinuria
Mucopolysaccharidosis, type I
Ornithine transcarbamylase deficiency
Pompe
Primary congenital hypothyroidism
Propionic acidemia
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase
Sickle cell disease (Hemoglobin S beta thalassemia)
Sickle cell disease (Hemoglobin SC)
Sickle cell disease (Hemoglobin SS disease)
Spinal muscular atrophy
T-cell related lymphocyte deficiencies
Trifunctional protein deficiency
Tyrosinemia, type I
Tyrosinemia, type II
Tyrosinemia, type III
Various hemoglobinopathies
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy

Contacto y soporte

Programa estatal de examen de recién nacidos

Programa de Examen de Recién Nacidos de Florida

Teléfono: 850-245-4201

Email: CMS.NBS@FLHealth.gov

Sitio web del Programa de Examen de Recién Nacidos de Florida (en inglés)

Recursos adicionales

Para encontrar una lista de recursos generales de soporte, activismo e información acerca del examen de recién nacidos, visite Recursos.

Última actualización:

February 2021