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

Newborn Screening: NC Newborn Screening Program Panel

Amino Acid Disorders

  • Argininemia§
  • Argininosuccinic Aciduria*
  • Benign Hyperphenylalaninemia§
  • Biopterin Defect in Cofactor Biosynthesis§
  • Biopterin Defect in Cofactor Regeneration§
  • Citrullinemia, Type l*
  • Citrullinemia, Type ll§
  • Classic Phenylketonuria*
  • Homocystinuria*
  • Hypermethioninemia§
  • Maple Syrup Urine Disorder*
  • Tyrosinemia, Type l*
  • Tyrosinemia, Type ll§
  • Tyrosinemia, Type lll§

Endocrine Disorders

  • Primary Congenital Hypothyroidism*
  • Congenital Adrenal Hyperplasia*

Fatty Acid Oxidation Disorders

  • Carnitine Acylcarnitine Translocase Deficiency§
  • Carnitine Palmitoyltransferase Type l Deficiency§
  • Carnitine Palmitoyltransferase Type ll Deficiency§
  • Carnitine Uptake Defect/Carnitine Transport Defect*
  • Glutaric Acidemia Type ll§
  • Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency*
  • Medium-chain Acyl-CoA Dehydrogenase Deficiency*
  • Medium-chain Ketoacyl-CoA Thiolase Deficiency§
  • Medium/short-chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency§
  • Short-chain Acyl-CoA Dehydrogenase Deficiency§
  • Trifunctional Protein Deficiency*
  • Very Long-chain Acyl-CoA Dehydrogenase Deficiency*

Hemoglobin Disorders

  • S, βeta-Thalassemia*
  • S,C Disease*
  • S,S Disease (Sickle Cell Anemia)*
  • Various other hemoglobinopathies including§:
    • Hemoglobin C Disease§
    • Hemoglobin E Disease§
    • Sickle/hemoglobin C Disease (FSC, Hb S/C)§
    • Sickle/hemoglobin E Disease (FSE, Hb S/E)§
    • Sickle/hemoglobin D Disease (FSD, Hb D/D)§

Lysosomal Storage Disorders

  • Mucopolysaccharidosis Type l*
  • Glycogen Storage Disease Type ll (Pompe)*

Organic Acid Conditions

  • 2-Methylbutyrylglycinuria§
  • 2-Methyl-3-Hydroxybutyric Aciduria§
  • 3-Hydroxy-3-Methyglutaric Aciduria*
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency*
  • 3-Methylglutaconic Aciduria§
  • β-Ketothiolase Deficiency*
  • Glutaric Acidemia Type l*
  • Holocarboxylase Synthase Deficiency*
  • Isobutyrylglycinuria§
  • Isovaleric Acidemia*
  • Malonic Acidemia§
  • Methylmalonic Acidemia, Cobalamin Disorders*
  • Methylmalonic Acidemia, Methylmalonyl-CoA Mutase*
  • Methylmalonic Acidemia with Homocystinuria§
  • Propionic Acidemia*

Other Conditions

  • Biotinidase Deficiency*
  • Classic Galactosemia*
  • Critical Congenital Heart Disease¥
  • Cystic Fibrosis*
  • Galactoepimerase Deficiency§
  • Galactokinase Deficiency§
  • Hearing Loss¥
  • Severe Combined Immunodeficiency (SCID)*
  • T-cell Related Lymphocyte Deficiencies§
  • Spinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1*
  • X-linked Adrenoleukodystrophy*

*Core condition on the RUSP, screening conducted at NCSLPH
¥Core condition on the RUSP, screening conducted at point of care
§Secondary condition on the RUSP, screening conducted at NCSLPH

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Newborn Screening Information



Updated: March 23, 2023