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This is a list of disorders included in newborn screening programs around the world, along with information on testing methodologies, disease incidence and rationale for being included in screening programs.

American College of Medical Genetics recommendations

Core panel

The following conditions and disorders were recommended as a "core panel" by the 2005 report of the American College of Medical Genetics (ACMG).^[1] The incidences reported below are from the full report, though the rates may vary in different populations.^[2]

Blood cell disorders

Sickle cell anemia (Hb SS) > 1 in 5,000; among African-Americans 1 in 400
Sickle-cell disease (Hb S/C) > 1 in 25,000
Hb S/Beta-Thalassemia (Hb S/Th) > 1 in 50,000

Inborn errors of amino acid metabolism

Tyrosinemia I (TYR I) < 1 in 100,000
Argininosuccinic aciduria (ASA) < 1 in 100,000
Citrullinemia (CIT) < 1 in 100,000
Phenylketonuria (PKU) > 1 in 25,000
Maple syrup urine disease (MSUD) < 1 in 100,000
Homocystinuria (HCY) < 1 in 100,000

Inborn errors of organic acid metabolism

Glutaric acidemia type I (GA I) > 1 in 75,000
Hydroxymethylglutaryl lyase deficiency (HMG) < 1 in 100,000
Isovaleric acidemia (IVA) < 1 in 100,000
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) > 1 in 75,000
Methylmalonyl-CoA mutase deficiency (MUT) > 1 in 75,000
Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B) < 1 in 100,000
Beta-ketothiolase deficiency (BKT) < 1 in 100,000
Propionic acidemia (PROP) > 1 in 75,000
Multiple-CoA carboxylase deficiency (MCD) < 1 in 100,000

Inborn errors of fatty acid metabolism

Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) > 1 in 75,000
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) > 1 in 25,000
Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) > 1 in 75,000
Trifunctional protein deficiency (TFP) < 1 in 100,000
Carnitine uptake defect (CUD) < 1 in 100,000

Miscellaneous multisystem diseases

Cystic fibrosis (CF) > 1 in 5,000
Congenital hypothyroidism (CH) > 1 in 5,000
Biotinidase deficiency (BIOT) > 1 in 75,000
Congenital adrenal hyperplasia (CAH) > 1 in 25,000
Classical galactosemia (GALT) > 1 in 50,000

Newborn screening by other methods than blood testing

Congenital deafness (HEAR) > 1 in 5,000

Secondary targets

The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report.^[1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals.^[1]

Blood cell disorders

Variant hemoglobinopathies (including Hb E)^[1]
Glucose-6-phosphate dehydrogenase deficiency (G6PD)

Inborn errors of amino acid metabolism

Tyrosinemia II^[1]
Argininemia^[1]
Benign hyperphenylalaninemia
Defects of biopterin cofactor biosynthesis^[1]
Defects of biopterin cofactor regeneration^[1]
Tyrosinemia III^[1]
Hypermethioninemia^[1]
Citrullinemia type II^[1]

Inborn errors of organic acid metabolism

Methylmalonic acidemia (Cbl C,D)^[1]
Malonic acidemia^[1]
2-Methyl 3-hydroxy butyric aciduria^[1]
Isobutyryl-CoA dehydrogenase deficiency^[1]
2-Methylbutyryl-CoA dehydrogenase deficiency^[1]
3-Methylglutaconyl-CoA hydratase deficiency^[1]
Glutaric acidemia type II
HHH syndrome (Hyperammonemia, hyperornithinemia, homocitrullinuria syndrome)
Beta-methyl crotonyl carboxylase deficiency
Adenosylcobalamin synthesis defects

Inborn errors of fatty acid metabolism

Miscellaneous multisystem diseases

Disorders added after the initial panel was defined

In addition to identifying a core list of disorders that infants in the United States should be screened for, the ACMG also established a framework for nominating future conditions, and the structure under which those conditions should be considered.