Recommended Screening Panel for Newborns

Below is the “core panel” of 29 heritable conditions for which the American College of Medical Genetics recommends newborn screening. Criteria for inclusion in the panel are the existence of a reliable screen and an efficacious treatment.

Organic Acidurias

Isovaleric acidemia

Glutaric acidemia type I

3-OH 3-CH3 glutaric aciduria

Multiple carboxylase deficiency

Methylmalonic acidemia due to mutase deficiency

3-Methylcrotonyl-CoA carboxylase deficiency

Methylmalonic acidemia cblA and cblB forms

Propionic acidemia

B_-Ketothiolase deficiency

Amino Acidurias

Phenylketonuria

Maple syrup (urine) disease

Homocystinuria (due to CBS deficiency)

Citrullinemia

Argininosuccinic acidemia

Tyrosinemia type I

Disorders of Fatty Oxidation

Medium-chain acyl-CoA dehydrogenase deficiency

Very long-chain acyl-CoA dehydrogenase deficiency

Long-chain L-3-OH acyl-CoA dehydrogenase deficiency

Trifunctional protein deficiency

Carnitine uptake defect

Hemoglobinopathies

Sickle cell anemia or Hb SS disease

Hb S/Beta-thalassemia

Hb S/C disease

Other

Congenital hypothyroidism

Biotinidase deficiency

Congenital adrenal hyperplasia (21-hydroxylase deficiency)

Classical galactosemia

Hearing loss

Cystic fibrosis

A description of how the college arrived at the panel is found in its 2006 report, “Newborn Screening: Toward a Uniform Screening Panel and System,” posted at<www.acmg.net/resources/policies/NBS/NBS_Exec_Sum.pdf>.▪