Tennessee | Newborn Screening

Panel estatal de exámenes de recién nacidos

2 methyl 3 hydroxybutyric aciduria
2,4 Dienyl CoA reductase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
3 hydroxy 3 methylglutaric aciduria
3 methyl crotonyl CoA carboxylase deficiency
3 methylglutaconyl CoA hydratase deficiency
Argininemia (Arginase deficiency)
Argininosuccinic aciduria
Benign hyperphenylalaninemia (due to biopterin defect in co-factor biosynthesis)
Benign hyperphenylalaninemia (due to biopterin defect in co-factor regeneration)
Benign hyperphenylalaninemia (due to phenylalanine hydroxylase deficiency, GTP cyclohydrolase I deficiency, pterin-4-alpha carbinolamine dehydratase deficiency, and 6-pyruboyltetahydropterin synthase deficiency)
Biotinidase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase type I deficiency
Carnitine palmitoyltransferase type II deficiency
Carnitine uptake defect
Citrullinemia type I (Argininosuccinate synthetase deficiency)
Citrullinemia type II
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart defect
Cystic fibrosis
Fabry disease
Galactokinase deficiency
Galactose epimerase deficiency
Galactosemia
Gaucher disease
Glutaric acidemia type I
Glutaric acidemia type II
Hearing defect
Hemoglobin SC disease
Homocystinuria or variant forms of hypermethioninemia
Hypermethioninemia
Hyperornithinemia
Isobutyrylglycinuria
Isovaleric acidemia
Krabbe disease
Long chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease (type IA, IB, II)
Medium chain acylCoA dehydrogenase deficiency
Medium/short chain 3 hydroxyacyl CoA dehydrogenase deficiency
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia with homocystinuria
Methylmalonyl-CoA mutase deficiency
Mucopolysaccharidosis type I
Multiple CoA carboxylase deficiency
Nonketotic hyperglycinemia
Ornithine transcarbamylase deficiency
Other Variant hemoglobinopathies
Phenylketonuria
Pompe disease
Propionic acidemia
Severe combined immunodeficiency
Short chain acylCoA dehydrogenase deficiency
Sickle beta thalassemia
Sickle cell anemia
Spinal muscular atrophy
T-cell related lymphocyte deficiencies
Trifunctional protein deficiency
Tyrosinemia type I (Hepatorenal)
Tyrosinemia type II
Tyrosinemia type III
Very long chain acylCoA dehydrogenase deficiency
X-linked adrenyleukodystrophy
β ketothiolase deficiency

Contacto y soporte

Programa estatal de examen de recién nacidos

Programa de Examen de Recién Nacidos del estado de Tennessee

Teléfono: 615-532-8462

Teléfono (alt.): 855-202-1357

FAX: 615-532-8555

Email: nbs.health@tn.gov

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

Programa estatal de examen de recién nacidos

Laboratorio de Examen de Recién Nacideo del estado de Tennessee

Teléfono: 615-262-6353

FAX: 615-262-6447

Email: labnbs.health@tn.gov

Sitio web del Laboratorio de Examen de Recién Nacideo del estado de Tennessee (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:

Noviembre 2022