Illinois | Newborn Screening

Panel estatal de exámenes de recién nacidos

2,4 Dienoyl-CoA reductase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Adrenoleukodystrophy
Alpha-thalassemia
Argininemia
Argininosuccinic aciduria
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine palmitoyl transferase deficiency, type 1A
Carnitine palmitoyltransferase deficiency, type 2
Carnitine uptake defect
Carnitine/acylcarnitine translocase deficiency
Citrullinemia, type I
Citrullinemia, type II
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Fabry
Galactosemia
Gaucher
Glutaric aciduria, type 1
Glutaric aciduria, type 2/Multiple acyl-CoA dehydrogenase deficiency
Guanidinoacetate methyltransferase deficiency
Hearing loss
Hemoglobin trait conditions
Holocarboxylase Synthase Deficiency (Multiple Carboxylase Deficiency- MCD)
Homocystinuria
Hypermethioninemia
Hyperphenylalaninemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Krabbe
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Malonic aciduria
Maple syrup urine disease
Medium chain acyl-CoA dehydrogenase deficiency
Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Metachromatic leukodystrophy
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Methylmalonic acidemia with homocystinuria (Cbl C,D)
MPS I (Hurler syndrome)
MPS II (Hunter's Syndrome)
Niemann-Pick
Non-ketotic hyperglycinemia
Ornithine transcarbamylase deficiency
Other hemoglobinopathies
Phenylketonuria
Pompe
Primary congenital hypothyroidism
Propionic acidemia
Severe combined immunodeficiency
Short chain acyl-CoA dehydrogenase deficiency
Sickle cell disease (S, S)
Sickle-C disease
Sickle-C disease (S, C)
Spinal muscular atrophy
T-cell lymphopenias
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 Illinois

Teléfono: 217-785-8101

FAX: 217-557-5324

Correo electrónico: DPH.Newbornscreening@illinois.gov

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

Detección e intervención tempranas de pérdida auditiva (EHDI)

Programa EHDI del estado de Illinois

Teléfono: 217-782-4733

FAX: 217-557-5324

Correo electrónico: DPH.Newbornhearing@illinois.gov

Sitio web del programa EHDI del estado de Illinois (en inglés)

Recursos adicionales

For a listing of general support, advocacy, and informational resources on Newborn Screening, visit the Resources page.

Fecha de la última revisión:

marzo de 2026