Professional News
Recommended Screening Panel for Newborns
Psychiatric News
Volume 44 Number 16 page 10-10

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.



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




Maple syrup (urine) disease

Homocystinuria (due to CBS deficiency)


Argininosuccinic acidemia

Tyrosinemia type I



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



Sickle cell anemia or Hb SS disease

Hb S/Beta-thalassemia

Hb S/C disease



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>.

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