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Conditions Screened

When the specimen is sent to the State Hygienic Laboratory at the University of Iowa, the sample is tested for a large variety of disorders. When a possible disorder has been detected, we alert the baby’s health care provider to the need for further testing or special care. By intervening early, complications from these disorders can be prevented.

In Iowa, the following types of disorders are required to be screened for by law:

AMINO ACIDEMIAS AND UREA CYCLE DISORDERS

  • (ASA) Argininosuccinic aciduria*  
  • (CIT) Citrullinemia, type 1 or ASA Synthetase Deficiency* 
  • (HCY) Homocystinuria (cystathionine 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)* 
  • (βKT) βeta-Ketothiolase*  
  • (MUT) Methylmalonic Acidemia (methylmalonyl-CoA mutase)*            
  • (PROP) Propionic acidemia* 
  • (MCD) Holocarboxylase synthase*

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*   

ENDOCRINE

  • (CAH) Congenital adrenal hyperplasia *
  • (CH) Primary Congenital hypothyroidism *   

HEMOGLOBINOPATHIES

OTHER

  • (BIOT) Biotinidase deficiency * 
  • (CF) Cystic Fibrosis *
  • (GALT) Classic Galactosemia * 
  • (SCID) Severe Combined Immunodeficiency *   

* Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Recommended Uniform Screening Panel - Core Panel

Screening for the Core Panel of disorders may show information about secondary conditions (by-products of mandatory screening)

For a complete list of disorders screened for, please click here.