Table of 31 Core Disorders
Below is a table summarizing the 31 core disorders for which the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends newborns be screened.
The table is adapted from the SACHDNC Recommended Uniform Screening Panel.
| Type of disorder | Disorder |
|---|---|
| Metabolic: Organic acid | Propionic academia (PROP) |
| Methylmalonic acidemia (methylmalonyl-CoA mutase, MUT) | |
| Methylmalonic acidemia (cobalamin disorders; Cbl A, B) | |
| Isovaleric academia (IVA) | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) | |
| 3-Hydroxy-3-methyglutaric aciduria (HMG) | |
| Holocarboxylase synthase deficiency (MCD) | |
| ß-Ketothiolase deficiency (ßKT) | |
| Glutaric acidemia type I (GA1) | |
| Metabolic: Fatty acid oxidation | Carnitine uptake defect/carnitine transport defect (CUD) |
| Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) | |
| Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) | |
| Trifunctional protein deficiency (TFP) | |
| Metabolic: Amino acid | Argininosuccinic aciduria (ASA) |
| Citrullinemia, type I (CIT) | |
| Maple syrup urine disease (MSUD) | |
| Homocystinuria (HCY) | |
| Classic phenylketonuria (PKU) | |
| Tyrosinemia, type I (TYR I) | |
| Endocrine | Congenital hypothyroidism (CH) |
| Congenital adrenal hyperplasia (CAH) | |
| Hemoglobin | S,S disease (Sickle cell anemia) (Hb SS) |
| S, ßeta-thalassemia (Hb S/ßTh) | |
| S,C disease (Hb S/C) | |
| Other | Biotinidase deficiency (BIOT) |
| Cystic fibrosis (CF) | |
| Classic galactosemia (GALT) | |
| Severe combined immunodeficiences (SCID) | |
| Non-laboratory tests | Critical congenital heart disease (CCHD) |
| Hearing loss (HEAR) |
