Skip all navigation Skip to page navigation

DHHS Home | Assistance | Divisions | About DHHS | DHHS Contacts

NC Department of Health and Human Services
State Laboratory of Public Health
N.C. Public Health Home
 
 

Newborn Screening: Disorders Tested

Disorders are detected by tandem mass spectrometry (MS/MS).

Amino Acid Disorders

  • Argininemia (ARG)
  • Argininosuccinic aciduria (ASA)
  • Citrullinemia, type 1 (CIT)
  • Homocystinuria (HCY)
  • Maple syrup urine disease (MSUD)
  • Phenylketonuria (PKU)
  • Tyrosinemia, type I (TYR I)
  • Tyrosinemia, type II (TYR II)
  • Tyrosinemia, type III (TYR III)
  • Defects of Biopterin cofactor biosynthesis (BIOPT-BS)
  • Defects of Biopterin cofactor regeneration (BIOPT-REG)
  • Citrullinemia, type II (CIT-II)
  • Hypermethioninemia (MET)

Organic Acid Disorders

  • 2-Methylbutyrylglycinuria (2MBG)
  • 3-Hydroxy-3-methylglutaric aciduria (HMG)
  • 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
  • Beta-ketothiolase deficiency (BKT)
  • Glutaric acidemia, type 1 (GA 1)
  • Holocarboxylase synthetase deficiency (MCD)
  • Isobutyrylglycinuria (IBG)
  • Isovaleric acidemia (IVA)
  • Malonic acidemia (MAL)
  • Methylmalonic acidemia (MUT; Cbl A, B; Cbl C, D)
  • Propionic acidemia (PROP)

Fatty Acid Disorders

  • Carnitine uptake defect/ Carnitine transport defect (CUD)
  • Carnitine acylcarnitine translocase deficiency (CACT)
  • Carnitine palmitoyltransferase type II deficiency (CPT II)
  • Glutaric acidemia, type II (GA 2)
  • Medium-chain acyl CoA dehydrogenase deficiency (MCAD)
  • Long-chain L-3 Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Trifunctional protein deficiency (TFP)
  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Disorders detected by biochemical and other technologies

  • Biotinidase deficiency (BIO)
  • Classic Galactosemia (GALT)
  • Congenital adrenal hypoplasia (CAH)
  • Cystic Fibrosis (CF)
  • Primary congenital hypothyroidism (CH)
  • Hearing loss (HEAR)
  • Hemoglobin C disease (FC)
  • Hemoglobin E disease (FE)
  • Sickle cell disease (FS, Hb S/S)
  • Sickle/hemoglobin C disease (FSC, Hb S/C)
  • Sickle/hemoglobin E disease (FSE, Hb S/E)
  • Sickle/hemoglobin D disease (FSD, Hb S/D)
  • Hemoglobin D disease (FD, Hb D/D)
  • Sickle/Beta Thalassemia (FSa, Hb S/Beta Thal)

Download and print this document. (PDF, 11 KB)

Newborn Screening Information