Tennessee | Newborn Screening

Panel estatal de exámenes de recién nacidos

2 methyl 3 hydroxybutyric aciduria
2 methylbutyryl glycinuria
2,4 Dienyl CoA reductase deficiency
3 hydroxy 3 methylglutaryl CoA lyase deficiency
3 methyl crotonyl CoA carboxylase deficiency
3 methylglutaconyl CoA hydratase deficiency
Argininemia (Arginase deficiency)
Argininosuccinate lyase 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 palmitoyl transferase deficiency type I
Carnitine palmitoyl transferase deficiency type II
Carnitine uptake deficiency
Carnitine/acylcarnitine translocase deficiency
Citrullinemia type I (Argininosuccinate synthetase deficiency)
Citrullinemia type II (citrin deficiency)
Classical galactosemia
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart defect
Cystic fibrosis
Fabry disease
Galactokinase deficiency
Galactose epimerase deficiency
Gaucher disease
Glutaric acidemia type I
Glutaric acidemia type II
Hearing defect
Hemoglobin SC disease
Homocystinuria or variant forms of hypermethioninemia
Hypermethioninemia (due to glycine N-methyltransferase deficiency, S-adenosylhomocysteine hydrolase deficiency, and methionine adenosyltransferase deficiency)
Hyperornithinemia
Isobutyryl CoA dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Long chain hydroxyl acylCoA dehydrogenase deficiency
Malonic aciduria
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
Mitochondrial acetoacetyl CoA thiolase deficiency (Beta ketotiolase)
Mucopolysaccharidosis I
Multiple CoA carboxylase deficiency
Nonketotic hyperglycinemia
Ornithine transcarbamylase deficiency
Other Variant hemoglobinopathies
Phenylketonuria
Pompe
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

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:

February 2021