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 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)