Screening Tests for Newborns
Table of 29 Disorders
Below is a table summarizing 29 disorders for which ACMG recommends newborns be screened.
The table is adapted from ACMG Newborn Screening ACT Sheets and Confirmatory Algorithms. Click here for the complete table and links to Action (ACT) sheets and algorithms provided by ACMG for use by health professionals in the follow-up of positive screening results.
| Type of disorder | Disorder |
|---|---|
| Endocrine disorders | Primary congenital hypothyroidism (CH) |
| Congenital adrenal hyperplasia (CAH) | |
| Hemoglobinopathies | Sickle cell anemia (HbSS or HbSߺ Thalassemia) |
| Hemoglobin SC disease (HbSC) | |
| Hemoglobin S/beta Thalassemia (HbSß+) | |
| Genetic disorders | Biotinidase deficiency |
| Cystic Fibrosis (CF) | |
| Hearing Loss | |
| Metabolic: Galactosemias | Classical galactosemia |
| Metabolic: Fatty acid oxidation disorders | Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) |
| Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) | |
| Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD) | |
| Trifunctional protein deficiency (TFP) | |
| Carnitine uptake deficiency (CUD) | |
| Metabolic: Organic acidemias | Isovaleric acidemia (IVA) |
| Glutaric acidemia 1 (GA 1) | |
| HMG-CoA lyase deficiency | |
| Multiple carboxylase deficiency (MCD) | |
| Methylmalonic acidemia due to mutase deficiency (MUT) | |
| Methylmalonic acidemia cblA and cblB | |
| Methylcrotonyl-CoA carboxylase deficiency (3MCC) | |
| Beta-ketothiolase deficiency (BKT) | |
| Propionic acidemia (PROP) | |
| Metabolic: Amino acid acidemias | Phenylketonuria (PKU) |
| Maple syrup urine disease (MSUD) | |
| Homocystinuria | |
| Citrullinemia | |
| Argininosuccinic acidemia (ASA) | |
| Tyrosinemia I |
