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.
Learn More About Newborn Disorders
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*
- (ARG) Argininemia**
- (BIOPT-BS) Defects of biopterin cofactor biosynthesis**
- (CIT-II) Citrullinemia, type II**
- (BIOPT-REG) Defects of biopterin cofactor regeneration**
- (H-PHE) Benign hyperphenylalaninemia**
- (MET) Hypermothioninemia**
- (TYR II) Tyrosinemia, type II**
- (TYR III) Tyrosinemia, type III**
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*
- (MCD) Holocarboxylase synthetase*
- (2M3HBA) 2-Methyl-3-hydroxybutyric aciduria**
- (2MBG) 2-Methylbutyrylglycinuria**
- (3MGA) 3-Methylglutaconic aciduria**
- (Cbl-C, D) Methylmalonic acidemia with homocystinuria**
- (MAL) Malonic acidemia**
Fatty Acid Oxidation Disorders
- (CUD) Carnitine uptake defect (Carnitine transport defect)*
- (LCHAD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase*
- (MCAD) Medium chain acyl-CoA dehydrogenase*
- (TFP) Trifunctional protein deficiency*
- (VLCAD) Very long-chain acyl-CoA dehydrogenase*
- (CACT) Carnitine acylcarnitine translocase**
- (CPT-Ia) Carnitine palmoitoyltransferase type I**
- (CPT-II) Carnitine palmitoyltransferase type II**
- (GA2) Glutaric acidemia type II**
- (MCKAT) Medium-chain ketoacyl-CoA thiolase**
- (M/SCHAD) Medium/Short chain L-3-hydroxyacyl-CoA dehydrogenase**
Endocrine
Hemoglobinopathies
- (Hb SS) S, S Disease (Sickle Cell Anemia)*
- (Hb S/C) S, C Disease*
- (HB S/ßTH) S, ßeta-thalassemia*
- (Var Hb) Variant hemoglobinopathies**
Other
- (BIOT) Biotinidase deficiency*
- (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*
Disorders on the recommended panel that currently are not screened:
- Critical Congenital Heart Disease
- (DE-RED) 2, 4 Dienoyl-CoA reductase deficiency**
- (GALK) Galactokinase deficiency**
- (GALE) Galactokinase Epimerase deficiency**
- (IBG) Isobutyrylglycinuria**
- (MPS I) Mucopolysaccharidosis type I*
- (MPS I) Mucopolysaccharidosis type II
- (SCAD) Short-chain acyl-CoA dehydrogenase**