Nueva York | Newborn Screening

Panel estatal de exámenes de recién nacidos

2,4-Dienoyl-CoA reductase deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic acidemia, type 1
Adrenoleukodystrophy
Argininemia
Argininosuccinic aciduria deficiency
Beta-ketothiolase deficiency
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine uptake defect
Citrullinemia
Cobalamin A,B cofactor deficiency
Cobalamin C,D cofactor deficiency
Congenital adrenal hyperplasia
Congenital cytomegalovirus
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Galactosemia
Glutaric acidemia, type I
Guanidinoacetate methyltransferase deficiency
Hearing loss
Homocystinuria
Human immunodeficiency virus
Hypermethioninemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Malonic aciduria
Maple syrup urine disease
Medium-chain 3-ketoacyl-CoA thiolase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency
Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonyl-CoA mutase deficiency
Mucopolysaccharidosis type I
Multiple acyl-CoA dehydrogenase deficiency
Multiple carboxylase deficiency
Phenylketonuria
Pompe disease
Propionic acidemia
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle cell disease (S/C)
Sickle cell disease (S/S)
Sickle cell trait
Spinal muscular atrophy
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Very long-chain acyl-CoA dehydrogenase deficiency

Contactos y asistencia

Programa estatal de examen de recién nacidos

Programa de examen de recién nacidos del estado de Nueva York

Teléfono: 518-473-7552

FAX: 518-474-0405

Correo electrónico: nbsinfo@health.ny.gov

Sitio web del Programa de examen de recién nacidos del estado de Nueva York (en inglés)

Detección e intervención tempranas de pérdida auditiva (EHDI)

Programa EHDI del estado de Nueva York

Correo electrónico: beinyehdi@health.state.ny.us

Sitio web del programa EHDI del estado de Nueva York

Recursos adicionales

Para obtener una lista de recursos, asistencia general e información acerca del examen de recién nacidos, visite la página Recursos.

Fecha de la última revisión:

septiembre de 2024