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Department of Health and Human Services
Advisory Committee on Heritable Disorders in Newborns and Children
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Recommended Uniform Screening Panel

Printer-Friendly Recommended Uniform Screening Panel (PDF - 191 KB)
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Recommended Uniform Screening Panel1

Core 2 Conditions 3

(as of November 2016)

ACMG Code

Core Condition

Metabolic Disorder

 

Endocrine Disorder

 

Hemoglobin Disorder

 

Other Disorder

Organic acid condition

Fatty acid oxidation disorders

Amino acid disorders

PROP Propionic acidemia X          
MUT Methylmalonic acidemia (methylmalonyl-CoA mutase) X          
Cbl A,B Methylmalonic acidemia (cobalamin disorders) X          
IVA Isovaleric acidemia X          
3-MCC 3-Methylcrotonyl-CoA carboxylase deficiency X          
HMG 3-Hydroxy-3-methyglutaric aciduria X          
MCD Holocarboxylase synthase deficiency X          
ßKT ß-Ketothiolase deficiency X          
GA1 Glutaric acidemia type I X          
CUD Carnitine uptake defect/carnitine transport defect   X        
MCAD Medium-chain acyl-CoA dehydrogenase deficiency   X        
VLCAD Very long-chain acyl-CoA dehydrogenase deficiency   X        
LCHAD Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency   X        
TFP Trifunctional protein deficiency   X        
ASA Argininosuccinic aciduria     X      
CIT Citrullinemia, type I     X      
MSUD Maple syrup urine disease     X      
HCY Homocystinuria     X      
PKU Classic phenylketonuria     X      
TYR I Tyrosinemia, type I     X      
CH Primary congenital hypothyroidism       X    
CAH Congenital adrenal hyperplasia       X    
Hb SS S,S disease (Sickle cell anemia)         X  
Hb S/ßTh S, βeta-thalassemia         X  
Hb S/C S,C disease         X  
BIOT Biotinidase deficiency           X
CCHD Critical congenital heart disease           X
CF Cystic fibrosis           X
GALT Classic galactosemia           X
GSD II Glycogen Storage Disease
Type II (Pompe)
          X
HEAR Hearing loss           X
SCID Severe combined Immunodeficiencies           X
MPS I Mucopolysaccharidosis Type 1           X
X-ALD X-linked Adrenoleukodystrophy           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 November 2016)

ACMG Code

Secondary Condition

Metabolic Disorder

 

Hemoglobin Disorder

 

Other Disorder

Organic acid condition

Fatty acid oxidation disorders

Amino acid disorders

Cbl C,D Methylmalonic acidemia  with homocystinuria X        
MAL Malonic acidemia X        
IBG Isobutyrylglycinuria X        
2MBG 2-Methylbutyrylglycinuria X        
3MGA 3-Methylglutaconic aciduria X        
2M3HBA 2-Methyl-3-hydroxybutyric aciduria X        
SCAD Short-chain acyl-CoA dehydrogenase deficiency   X      
M/SCHAD Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency   X      
GA2 Glutaric acidemia type II   X      
MCAT Medium-chain ketoacyl-CoA thiolase deficiency   X      
DE RED 2,4 Dienoyl-CoA reductase deficiency   X      
CPT IA Carnitine palmitoyltransferase type I deficiency   X      
CPT II Carnitine palmitoyltransferase type II deficiency   X      
CACT Carnitine acylcarnitine translocase deficiency   X      
ARG Argininemia     X    
CIT II Citrullinemia, type II     X    
MET Hypermethioninemia     X    
H-PHE Benign hyperphenylalaninemia     X    
BIOPT (BS) Biopterin defect in cofactor biosynthesis     X    
BIOPT (REG) Biopterin defect in cofactor regeneration     X    
TYR II Tyrosinemia, type II     X    
TYR III Tyrosinemia, type III     X    
Var Hb Various other hemoglobinopathies       X  
GALE Galactoepimerase deficiency         X
GALK 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.