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Recommended Uniform Screening Panel

The RUSP is a list of disorders that are recommended by the Secretary of the Department of Health and Human Services (HHS) for states to screen as part of their state universal newborn screening (NBS) programs. Disorders on the RUSP are 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 that every newborn be screened for all disorders on the RUSP. Most states screen for the majority of disorders on the RUSP; newer conditions are still in process of adoption. Some states also screen for additional disorders. Although states ultimately determine what disorders their NBS program will screen for, the RUSP establishes a standardized list of disorders that have been supported by the Advisory Committee on Heritable Disorders in Newborns and Children and recommended by the Secretary of HHS.

Conditions listed on the RUSP are part of the comprehensive preventive health guidelines supported by HRSA for infants and children under section 2713 of the Public Health Service Act. Non-grandfathered health plans are required to cover screenings included in the HRSA-supported comprehensive guidelines without charging a co-payment, co-insurance, or deductible for plan years beginning on or after the date that is one year from the Secretary’s adoption of the condition for screening. 

Previously Nominated Conditions
(Recommended and Not Recommended for the RUSP)

 

Printer-Friendly Recommended Uniform Screening Panel (PDF - 95 KB)

Recommended Uniform Screening Panel1
Core2 Conditions3
(as of July 2018)

Core Condition

Metabolic Disorder

 

Endocrine Disorder

 

Hemoglobin Disorder

 

Other Disorder

Organic acid condition

Fatty acid oxidation disorders

Amino acid disorders

Propionic acidemia

X

 

 

 

 

 

Methylmalonic acidemia (methylmalonyl-CoA mutase)

X

 

 

 

 

 

Methylmalonic acidemia (cobalamin disorders)

X

 

 

 

 

 

Isovaleric acidemia

X

 

 

 

 

 

3-Methylcrotonyl-CoA carboxylase deficiency

X

 

 

 

 

 

3-Hydroxy-3-methyglutaric aciduria

X

 

 

 

 

 

Holocarboxylase synthase deficiency

X

 

 

 

 

 

ß-Ketothiolase deficiency

X

 

 

 

 

 

Glutaric acidemia type I

X

 

 

 

 

 

Carnitine uptake defect/carnitine transport defect

 

X

 

 

 

 

Medium-chain acyl-CoA dehydrogenase deficiency

 

X

 

 

 

 

Very long-chain acyl-CoA dehydrogenase deficiency

 

X

 

 

 

 

Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency

 

X

 

 

 

 

Trifunctional protein deficiency

 

X

 

 

 

 

Argininosuccinic aciduria

 

 

X

 

 

 

Citrullinemia, type I

 

 

X

 

 

 

Maple syrup urine disease

 

 

X

 

 

 

Homocystinuria

 

 

X

 

 

 

Classic phenylketonuria

 

 

X

 

 

 

Tyrosinemia, type I

 

 

X

 

 

 

Primary congenital hypothyroidism

 

 

 

X

 

 

Congenital adrenal hyperplasia

 

 

 

X

 

 

S,S disease (Sickle cell anemia)

 

 

 

 

X

 

S, βeta-thalassemia

 

 

 

 

X

 

S,C disease

 

 

 

 

X

 

Biotinidase deficiency

 

 

 

 

 

X

Critical congenital heart disease

 

 

 

 

 

X

Cystic fibrosis

 

 

 

 

 

X

Classic galactosemia

 

 

 

 

 

X

Glycogen Storage Disease
Type II (Pompe)

 

 

 

 

 

X

Hearing loss

 

 

 

 

 

X

Severe combined Immunodeficiencies

 

 

 

 

 

X

Mucopolysaccharidosis Type 1

 

 

 

 

 

X

X-linked Adrenoleukodystrophy

 

 

 

 

 

X

Spinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1

 

 

 

 

 

X

 

  1. Selection of conditions based upon “Newborn Screening: Towards a Uniform Screening Panel and System.” Genetic 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).
  2. Disorders that should be included in every Newborn Screening Program.
  3. Nomenclature for Conditions based upon “Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels.” Pediatrics. 2006; 117 (5) Suppl: S308-S314.



 
ACHDNC Recommended Uniform Screening Panel1
Secondary2 Conditions 3
(as of July 2018)

Secondary Condition

Metabolic Disorder

 

Hemoglobin Disorder

 

Other Disorder

Organic acid condition

Fatty acid oxidation disorders

Amino acid disorders

Methylmalonic acidemia  with homocystinuria

X

 

 

 

 

Malonic acidemia

X

 

 

 

 

Isobutyrylglycinuria

X

 

 

 

 

2-Methylbutyrylglycinuria

X

 

 

 

 

3-Methylglutaconic aciduria

X

 

 

 

 

2-Methyl-3-hydroxybutyric aciduria

X

 

 

 

 

Short-chain acyl-CoA dehydrogenase deficiency

 

X

 

 

 

Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency

 

X

 

 

 

Glutaric acidemia type II

 

X

 

 

 

Medium-chain ketoacyl-CoA thiolase deficiency

 

X

 

 

 

2,4 Dienoyl-CoA reductase deficiency

 

X

 

 

 

Carnitine palmitoyltransferase type I deficiency

 

X

 

 

 

Carnitine palmitoyltransferase type II deficiency

 

X

 

 

 

Carnitine acylcarnitine translocase deficiency

 

X

 

 

 

Argininemia

 

 

X

 

 

Citrullinemia, type II

 

 

X

 

 

Hypermethioninemia

 

 

X

 

 

Benign hyperphenylalaninemia

 

 

X

 

 

Biopterin defect in cofactor biosynthesis

 

 

X

 

 

Biopterin defect in cofactor regeneration

 

 

X

 

 

Tyrosinemia, type II

 

 

X

 

 

Tyrosinemia, type III

 

 

X

 

 

Various other hemoglobinopathies

 

 

 

X

 

Galactoepimerase deficiency

 

 

 

 

X

Galactokinase deficiency

 

 

 

 

X

T-cell related lymphocyte deficiencies

 

 

 

 

X

  1. Selection of conditions based upon “Newborn Screening: Towards a Uniform Screening Panel and System.” Genetic 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).
  2. Disorders that can be detected in the differential diagnosis of a core disorder.
  3. Nomenclature for Conditions based upon “Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels.” Pediatrics. 2006; 117 (5) Suppl: S308-S314.

 

Persons using assistive technology may not be able to fully access information in this file.  For assistance, please email Alaina Harris.

Date Last Reviewed:  July 2018