California | Newborn Screening

Panel estatal de exámenes de recién nacidos

2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy-3-methylglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Alpha thalassemia major
Argininemia
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carbamoylphosphate synthetase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine uptake defect
Citrullinemia type I
Citrullinemia type II
Classic galactosemia
Classic phenylketonuria
Congenital Adrenal Hyperplasia (11βMonooxygenase Deficiency)
Critical congenital heart disease
Cystic fibrosis
Ethylmalonic encephalopathy
Formiminoglutamic acidemia
Glutaric acidemia type I
Glutaric acidemia type II
Glycogen storage disease type II (Pompe)
Guanidinoacetate Methyltransferase (GAMT)
Gyrate atrophy of the choroid and retina
Hearing loss
Hemoglobin C trait (carrier)
Hemoglobin D trait (carrier)
Hemoglobin E trait (carrier)
Hemoglobin H disease
Hemoglobin other trait (carrier)
Hemoglobin S trait (carrier)
Holocarboxylase synthase deficiency
Homocystinuria
Hypermethioninemia
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperprolinemia type I
Hyperprolinemia type II
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase deficiency
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Methylmalonic acidemia with homocystinuria
Mucopolysaccharidosis type I
Mucopolysaccharidosis Type II (MPS II)
Ornithine transcarbamylase deficiency
Primary congenital hypothyroidism
Propionic acidemia
S, β-thalassemia
S,C disease
S,S disease (sickle cell anemia)
Severe combined immunodeficiencies
Short-chain acyl-CoA dehydrogenase deficiency
Spinal muscular atrophy
T-cell related lymphocyte deficiencies
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Various other hemoglobinopathies
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy
Zellweger spectrum disorders
β-ketothiolase deficiency

Contactos y asistencia

Programa estatal de examen de recién nacidos

Programa de examen de recién nacidos del estado de California

Correo electrónico: NBS@cdph.ca.gov

Sitio web del Programa de examen de recién nacidos del estado de California (en inglés; recursos en español disponibles)

Detección e intervención tempranas de pérdida auditiva (EHDI)

Programa EHDI del estado de California

Teléfono: 877-388-5301

FAX: 916-440-5305

Correo electrónico: nhsp3@dhcs.ca.gov

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

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