MCHB - Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

HRSA - U.S Department of Health and Human Services, Health Resources and Service Administration

Advisory Committee on Heritable Disorders in Newborns and Children

Recommended Uniform Screening Panel* of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

Printer-friendly Recommended Uniform Screening Panel* of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (84K)

Core+ Conditions **	Secondary Target+ + Conditions **
ENDOCRINE DISORDERS
Thyroid disorders
Primary congenital hypothyroidism
Disorders of adrenal steroidogenesis
Congenital adrenal hyperplasia
METABOLIC DISORDERS
Organic acid disorders
Propionic acidemia Methylmalonic acidemia Methylmalonic acidemia Isovaleric acidemia 3-Methylcrotonyl-CoA carboxylase deficiency I 3-Hydroxy-3-methyglutaric aciduria Holocarboxylase synthetase deficiency βeta;-Ketothiolase deficiency Glutaric acidemia type I	Methylmalonic acidemia Malonic acidemia Isobutyrylglycinuria 2-Methylbutyrylglycinuria 3-Methylglutaconic aciduria 2-Methyl-3-hydroxybutyric aciduria
Fatty acid oxidation disorders
Carnitine uptake defect/carnitine transport defect Medium-chain acyl-CoA dehydrogenase deficiency Very long-chain acyl-CoA dehydrogenase deficiency Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency Trifunctional protein deficiency	Short-chain acyl-CoA dehydrogenase deficiency Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency Glutaric acidemia type II Medium-chain ketoacyl-CoA thiolase deficiency 2,4-Dienoyl-CoA reductase deficiency Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase II deficiency Carnitine acylcarnitine translocase deficiency
Amino acid disorders
Argininosuccinic aciduria Citrullinemia, type I Maple syrup urine disease Homocystinuria Classic phenylketonuria Tyrosinemia, type I	Argininemia Citrullinemia, type II Hypermethioninemia Benign hyperphenylalaninemia Biopterin defect in cofactor biosynthesis Biopterin defect in cofactor regeneration Tyrosinemia, type II Tyrosinemia, type III
HEMOGLOBIN DISORDERS
S,S disease (Sickle cell Anemia) S, βeta 0-thalassemia S,C disease (Sickle – C disease)	Various other hemoglobinopathies
VITAMIN DISORDERS
Biotinidase deficiency
OTHER DISORDERS
Galactose disorders
Classic galactosemia	Galactoepimerase deficiency Galactokinase deficiency
Pulmonary disorders
Cystic fibrosis
Congenital hearing loss
Hearing loss

*The selection of these conditions is based on the report “Newborn Screening: Towards a Uniform Screening Panel and System. Genet Med. 2006; 8(5) Suppl: S12-S252” as authored by the American College of Medical Genetics (ACMG) and commissioned by the Health Resources and Services Administration (HRSA).

**The Nomenclature for Conditions is based on the report “Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels” Pediatrics 2006; 117 (5) Suppl: S308-S314

+Disorders that should be included in every Newborn Screening Program
++Disorders that can be detected in the differential diagnosis of a core disorder