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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 I*
  • Citrullinemia, type II§
  • Classic phenylketonuria*
  • Homocystinuria*
  • Hypermethioninemia§
  • Maple syrup urine disorder*
  • Tyrosinemia, type I*
  • Tyrosinemia, type II§
  • Tyrosinemia, type III§

Endocrine Disorders

  • Primary Congenital Hypothyroidism*
  • Congenital Adrenal Hyperplasia*

Fatty Acid Oxidation Disorders

  • Carnitine acylcarnitine translocase deficiency§
  • Carnitine palmitoyltransferase type II deficiency§
  • Carnitine uptake defect/Carnitine transport defect*
  • Glutaric acidemia type II§
  • Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency*
  • Medium-chain acyl-CoA dehydrogenase deficiency*
  • Medium-chain ketoacyl-CoA thiolase 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)§

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 1*
  • 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§

*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