Newborn Screening in Missouri

Missouri Newborn Screening
Phone: 573-751-6266
Phone (alt.): 800-877-6246
FAX: 573-751-6185
Email: info@health.mo.gov

Missouri Newborn Screening Website

 

Total number of conditions screened in this state: 63

2,4 Dienoyl-CoA reductase deficiency
2-methyl-3-hydroxybutyric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Adrenoleukodystrophy
Argininemia
Argininosuccinic aciduria
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyl transferase type I deficiency
Carnitine palmitoyl transferase type II deficiency
Carnitine uptake defect
Citrullinemia, type I
Citrullinemia, type II
Classic galactosemia
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Fabry
Gaucher
Glutaric acidemia type I
Glutaric acidemia type II
Hearing loss
Hemoglobin-H disease
Holocarboxylase synthetase deficiency
Homocystinuria
Hunter
Hurler
Hypermethioninemia
Hyperphenylalaninemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Krabbe
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia (Cbl A,B)
Methylmalonic acidemia (Cbl C, D)
Methylmalonic acidemia (methylmalonyl-CoA mutase deficiency)
Phenylketonuria
Pompe
Primary congenital hypothyroidism
Propionic acidemia
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle beta plus thalassemia disease
Sickle cell disease
Sickle hemoglobin-C disease
Spinal muscular atrophy
Trifunctional protein deficiency
Tyrosinemia, type I
Tyrosinemia, type II
Tyrosinemia, type III
Various other hemoglobinopathies
Very long-chain acyl-CoA dehydrogenase deficiency

 

Last Reviewed 03/01/2023