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
