Pennsylvania | Newborn Screening

Panel estatal de exámenes de recién nacidos

2,4 Dienoyl-CoA reductase deficiency
2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy-3methlglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic acidemia
Benign hyperphenylalaninemia
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase type I deficiency
Carnitine palmitoyltransferase type II deficiency
Carnitine uptake defect
Citrullinemia
Citrullinemia type II
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart defects
Cystic fibrosis
Galactoepimerase deficiency
Galactokinase deficiency
Globoid cell leukodystrophy (Krabbe disease)
Glutaric acidemia type I
Glutaric acidemia type II
Glycogen storage disease type II (Pompe disease)
Hemoglobin point mutation testing detects hemoglobin D, E, and O
Homocystinuria
Hypermethioninemia
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium chain acyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia (Cbl A,B)
Methylmalonic acidemia (mutase deficiency)
Methylmalonic acidemia with homocystinuria
Mucopolysaccharidosis type I (Hurler syndrome)
Multiple carboxylase deficiency
Newborn hearing screening
Phenylketonuria
Propionic acidemia
S-beta thalessemia
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle cell anemia
Sickle-C disease
Spinal muscular atrophy
T-cell related lymphocyte deficiencies
Transferase deficient galactosemia (classical)
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
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 del estado de Pennsylvania

Teléfono: 717-783-8143

Sitio web del Programa de Examen de Recién Nacidos del estado de Pennsylvania (en inglés, puede traducirla arriba a la derecha)

Detección e intervención tempranas de pérdida auditiva (EHDI)

Programa EHDI del estado de Pennsylvania

Teléfono: 717-783-8143

FAX: 717-705-9386

Email: nbhs@pa.gov

Sitio web del Programa EHDI del estado de Pennsylvania (en inglés, puede traducirla arriba a la derecha)

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