Missouri Blood Spot Screening Panel

Missouri's Newborn Blood Spot Screening Panel includes the following disorders:

  • Adrenoleukodystrophy
  • Biotinidase Deficiency (BIOT)
  • Classic Galactosemia (GALT)
  • Congenital Adrenal Hyperplasia (CAH)
  • Cystic Fibrosis (CF)
  • Primary Congenital Hypothyroidism (CH)
  • Severe Combined Immunodeficiency (SCID)
  • Spinal Muscular Atrophy (SMA)

Amino Acid Disorders

  • Argininemia (ARG)
  • Argininosuccinic aciduria (ASA)
  • Citrullinemia, type I (CIT-I)
  • Citrullinemia, type II (CIT-II)
  • Biopterin defect in cofactor biosynthesis (BIOPT-BS)
  • Biopterin defect in cofactor regeneration (BIOPT-BS)
  • Homocystinuria (HCY)
  • Hyperphenylalaninemia (H-PHE)
  • Hypermethioninemia (MET)
  • Maple syrup urine disease (MSUD)
  • Phenylketonuria (PKU)
  • Tyrosinemia, type I (TYR I)*
  • Tyrosinemia, type II (TYR II)
  • Tyrosinemia, type III (TYR III)

Fatty Acid Oxidation Disorders

  • 2,4-Dienoyl-CoA reductase deficiency (DE RED)
  • Carnitine acylcarnitine translocase deficiency (CACT)
  • Carnitine palmitoyl transferase type I deficiency (CPT-IA)
  • Carnitine palmitoyl transferase type II deficiency (CPT-II)
  • Carnitine uptake defect (CUD)*
  • Glutaric acidemia type II (GA-2)
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)
  • Medium/Short-chain hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Trifunctional protein deficiency (TFP)
  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acid Disorders

  • 2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
  • 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
  • 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
  • 3-Methylglutaconic aciduria (3MGA)
  • Beta-ketothiolase deficiency (BKT)
  • Glutaric acidemia type I (GA-I)
  • Holocarboxylase synthetase deficiency (MCD)
  • Isobutyryl-CoA dehydrogenase deficiency (IBG)
  • Isovaleric acidemia (IVA)
  • Malonic acidemia (MAL)*
  • Methylmalonic acidemia (Cbl A, B)
  • Methylmalonic acidemia (Cbl C, D)
  • Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency)(MUT)
  • Propionic acidemia (PROP)

Hemoglobinopathies

  • Sickle cell disease (Hb S/S)
  • Sickle hemoglobin-C disease (Hb S/C)
  • Sickle beta zero thalassemia disease
  • Sickle beta plus thalassemia disease
  • Sickle hemoglobin-D disease
  • Sickle hemoglobin-E disease
  • Sickle hemoglobin-O-Arab disease
  • Sickle hemoglobin Lepore Boston disease
  • Sickle HPFH disorder
  • Sickle “Unidentified”
  • Hemoglobin-C beta zero thalassemia disease
  • Hemoglobin-C beta plus thalassemia disease
  • Hemoglobin-E beta zero thalassemia disease
  • Hemoglobin-E beta plus thalassemia disease
  • Hemoglobin-H disease
  • Homozygous beta zero thalassemia disease
  • Homozygous-C disease
  • Homozygous-E disease
  • Double heterozygous beta thalassemia disease

Lysosomal Storage Disorders

  • Fabry
  • Gaucher
  • Hunter
  • Hurler
  • Krabbe
  • Pompe

For more information about these disorders, visit:

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