Recommended Newborn Screening Panel

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Last Updated: March 6, 2025

Numerous inherited disorders are tested for in newborns in all 50 United States as a means to identify afflicted newborns and to allow for early intervention. Not all states test for the same disorders as some screen for disorders not included in the recommended panel but the following Table is a list of disorders that the Secretary of the Department of Health and Human Services (HHS) recommends for states to screen as part of their state universal newborn screening (NBS) programs.

Disorders on the Recommended Uniform Screening Panel (RUSP) were chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments. It is recommended by the HHS that every newborn be screened for all disorders on the RUSP.

Conditions listed on the following Table represent the Core Conditions recommended for newborn screening. All conditions that are linked will take you to a specific page detailing the disorder or to a location in a page where the disorder is discussed.

In addition to the Core Conditions listed in the following Table, the HHS lists Secondary Conditions in its RUSP. These conditions are included in the Table of Secondary Conditions.

Table of RUSP Core Conditions as of July 2024

Amino Acid DisorderFatty Acid Oxidation DisorderOrganic Acid DisorderHemoglobin DisorderEndocrine DisorderOther Disorder
Argininosuccinic aciduria
ASL gene
Citrullinemia, type 1
ASS1 gene
Homocystinuria
CBS gene in classic form
MTHFR, MTR, MTRR, or MMADHC gene associated with rare forms
Maple syrup urine disease
BCKDHA gene, type IA
BCKDHB gene, type IB
DBT gene, type II
DLD gene, type III
Phenylketonuria
PAH gene
Tyrosinemia, type 1
FAH gene
Carnitine deficiency, systemic primary
SLC22A5 gene
Medium-chain acyl-CoA dehydrogenase deficiency
ACADM gene
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA gene
Trifunctional protein deficiency
HADHA and/or HADHB genes
Very long-chain acyl-CoA dehydrogenase deficiency
ACADVL gene
Beta-ketothiolase deficiency
ACAT1 gene
Glutaric acidemia/aciduria, type 1
GCDH gene
Holocarboxylase synthetase deficiency
HLCS gene
3-Hydroxy-3-methylglutaric aciduria
HMGCL gene
Isovaleric acidemia
IVD gene
3-Methylcrotonyl-CoA carboxylase deficiency
MCCC1 gene, type I
MCCC2 gene, type II
Methylmalonic acidemias
MMUT, MMAA, MMAB, and/or MCEE genes
Propionic acidemia
PCCA and/or PCCB genes
Beta-Thalassemias
beta globin cluster
SC disease
HBB gene
Sickle cell anemia
HBB gene
Congenital adrenal hyperplasia
CYP21A2 gene (most common)
CYP11B1
Primary congenital hypothyroidism
Biotinidase deficiency
BTD gene
Classic galactosemia
Critical congenital heart disease
Cystic fibrosis
Guanidinoacetate N-methyltransferase deficiency
a creatine deficiency syndrome
GAMT gene
Hearing loss
Krabbe disease, infantile form
GALC gene
Mucopolysaccharidosis type I: MPS1 Hurler and Scheie syndromes
IDUA gene
Mucopolysaccharidosis type II: MPS2 Hunter syndrome
IDS gene
Pompe disease
glycogen storage disease type 2: GSD2
GAA gene
Severe combined immunodeficiencies
Spinal muscular atrophy: homozygous deletion in SMN1 gene
X-linked adrenoleukodystrophy
ABCD1 gene

Table of RUSP Secondary Conditions as of July 2024

Amino Acid DisorderFatty Acid Oxidation DisorderOrganic Acid DisorderHemoglobin DisorderEndocrine DisorderOther Disorder
Argininemia
ARG1 gene
Benign hypephenylalaninemia
PAH gene
Biopterin synthesis defect
GCH1 or PTS genes
Biopterin regeneration defect
QDPR or PCBD1 genes
Citrullinemia, type 2
SLC25A13 gene
Hypermethioninemia
ACHY, MAT1A, or GNMT genes
Tyrosinemia, type 2
TAT gene
Tyrosinemia, type 3
HPD gene
2,4-Dienoyl-CoA reductase deficiency
NADK2 gene
Carnitine acylcarnitine translocase deficiency
SLC25A20 gene
Carnitine palmitoyltransferase 1 (CPT1) deficiency
Carnitine palmitoyltransferase 2 (CPT2) deficiency
Glutaric acidemia type 2
ETFA, ETFB, and/or ETFHD genes
also called Multiple Acyl-CoA Dehydrogenase Deficiency: MADD
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
HADH gene
Short-chain acyl-CoA dehydrogenase deficiency
ACADS gene
2-methyl-3-hydroxybutyric aciduria
HSD17B10 gene
2-Methylbutyrylglycinuria
ACADSB gene
3-Methylglutaconic aciduria
AUH gene (type 1)
TAZ gene (type 2)
OPA3 gene (type 3)
DNAJC19 gene (type 4)
Isobutyrylglycinuria
ACAD8 gene
Malonic acidemia
MLYCD gene
Methylmalonic acidemia with homocystinuria
Various other hemoglobinopathies
Galactoepimerase deficiency
GALE gene
Galactokinase deficiency
GALK gene
T-cell related lymphocyte deficiencies

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