Disorders screened at the South Dakota designated newborn screening laboratory, the State Hygienic Laboratory at the University of Iowa, using the dried blood spot specimen.
Amino Acidemias and Urea Cycle Disorders
- (ASA) Argininosuccinic aciduria*
- (CIT) Citrullinemia, type 1 or ASA Synthetase Deficiency*
- (HCY) Homocystinuria (cystathoinine beta synthetase)*
- (MSUD) Maple Syrup Urine Disease*
- (PKU) Classic Phenylketonuria*
- (TYR-1) Tyrosinemia, type I*
Organic Acidemias
- (GA-1) Glutaric acidemia type I*
- (HMG) 3-Hydroxy 3-methylglutaric aciduria*
- (IVA) Isovaleric acidemia*
- (3-MCC) 3-Methylcrotonyl-CoA carboxylase*
- (Cbl-A,B) Methylmalonic acidemia (cobalamin disorders, vitamin B12 disorders)*
- (ßKT) ßeta-Ketothiolase*
- (MUT) Methylmalonic Acidemia (methylmalonyl-CoA mutase)*
- (PROP) Propionic acidemia*
Fatty Acid Oxidation Disorders
Hemoglobinopathies
- (Hb SS) S, S Disease (Sickle Cell Anemia)*
- (Hb S/C) S, C Disease*
- (HB S/ßTH) S, ßeta-thalassemia*
Other
- (BIOT) Biotinidase deficiency*
- (CCHD) Critical Congenital Heart Disease
- (CF) Cystic Fibrosis*
- (SCID) Severe Combined Immunodeficiency*
- (GALT) Classic Galactosemia*
- (GSD II) Glycogen Storage Disease Type II (Pompe)*
- Hearing Loss
- (SMA) Spinal Muscular Atrophy*
- Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Recommended Uniform Screening Panel (RUSP) - Core Panel
- *RUSP - Secondary Targets - Screening for the Core Panel of disorders may show information about secondary conditions (by-products of mandatory screening)
- (X-ALD) X-linked Adrenoleukodystrophy*