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Screening Tests for Newborns

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Not everyone in this age group may need screening for every condition listed here. Click on the links above to read more about each condition and to determine if screening may be appropriate for you or your family member. You should discuss screening options with your health care practitioner.

Table of 34 Core Disorders

Below is a table summarizing the 34 core disorders for which the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends newborns be screened as of November 2016.

The table is adapted from the SACHDNC Recommended Uniform Screening Panel.

Type of disorderDisorder
Metabolic: Organic acid Propionic acidemia (PROP)
Methylmalonic acidemia (methylmalonyl-CoA mutase, MUT)
Methylmalonic acidemia (cobalamin disorders; Cbl A, B)
Isovaleric acidemia (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 Primary congenital hypothyroidism (CH)
  Congenital adrenal hyperplasia (CAH)
Hemoglobin   S,S disease (Sickle cell anemia) (Hb SS)
S, ß-thalassemia (Hb S/ßTh)
S,C disease (Hb S/C)
Other      Biotinidase deficiency (BIOT)
Cystic fibrosis (CF)
Classic galactosemia (GALT)
Glycogen storage disease type II (Pompe, GSD II)
Mucopolysaccharidosis type I (MPS I)
X-linked adrenoleukodystrophy (X-ALD)
Severe combined immunodeficiences (SCID)
Non-laboratory tests   Critical congenital heart disease (CCHD)
Hearing loss (HEAR)