Illinois Newborn Screening
Phone: 217-785-8101
FAX: 217-557-5396
Illinois Newborn Screening Website
Total number of conditions screened in this state: 65
2-methylbutyryl-CoA dehydrogenase deficiency3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
5-oxoprolinuria
Adrenoleukodystrophy
Alpha-thalassemia
Argininemia
Argininosuccinic aciduria
Beta thalassemia major
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
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Fabry
Galactosemia
Gaucher
Glutaric aciduria, type 1
Glutaric aciduria, type 2/Multiple acyl-CoA dehydrogenase deficiency
Hearing loss
Hemoglobin trait conditions
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
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Methylmalonic acidemia with homocystinuria
MPS I (Hurler’s syndrome)
MPS II (Hunter's Syndrome)
Multiple carboxylase deficiency
Niemann-Pick
Other hemoglobinopathies
Phenylketonuria
Pompe
Propionic acidemia
S,C disease
S,S disease (sickle cell anemia)
Severe combined immunodeficiency
Short chain acyl-CoA dehydrogenase deficiency
Spinal muscular atrophy
T-cell lymphopenias
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia, type I
Tyrosinemia, type II
Tyrosinemia, type III
Very long chain acyl-CoA dehydrogenase deficiency
Last Reviewed 03/01/2023
