Missouri Blood Spot Screening Panel
Missouri's Newborn Blood Spot Screening Panel includes the following disorders:
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
For more information about these disorders, visit:
