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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

Recommended Uniform Screening Panel1

Core 2 Conditions 3

(as of March 2015)

ACMG Code

Core Condition

Metabolic Disorder

 

Endocrine Disorder

 

Hemoglobin Disorder

 

Other Disorder

Organic acid condition

Fatty acid oxidation disorders

Amino acid disorders

PROPPropionic acidemiaX     
MUTMethylmalonic acidemia (methylmalonyl-CoA mutase)X     
Cbl A,BMethylmalonic acidemia (cobalamin disorders)X     
IVAIsovaleric acidemiaX     
3-MCC3-Methylcrotonyl-CoA carboxylase deficiencyX     
HMG3-Hydroxy-3-methyglutaric aciduriaX     
MCDHolocarboxylase synthase deficiencyX     
ßKTß-Ketothiolase deficiencyX     
GA1Glutaric acidemia type IX     
CUDCarnitine uptake defect/carnitine transport defect X    
MCADMedium-chain acyl-CoA dehydrogenase deficiency X    
VLCADVery long-chain acyl-CoA dehydrogenase deficiency X    
LCHADLong-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency X    
TFPTrifunctional protein deficiency X    
ASAArgininosuccinic aciduria  X   
CITCitrullinemia, type I  X   
MSUDMaple syrup urine disease  X   
HCYHomocystinuria  X   
PKUClassic phenylketonuria  X   
TYR ITyrosinemia, type I  X   
CHPrimary congenital hypothyroidism   X  
CAHCongenital adrenal hyperplasia   X  
Hb SSS,S disease (Sickle cell anemia)    X 
Hb S/ßThS, βeta-thalassemia    X 
Hb S/CS,C disease    X 
BIOTBiotinidase deficiency     X
CCHDCritical congenital heart disease     X
CFCystic fibrosis     X
GALTClassic galactosemia     X
GSD IIGlycogen Storage Disease
Type II (Pompe)
     X
HEARHearing loss     X
SCIDSevere combined immunodeficiences     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.


 

SACHDNC Recommended Uniform Screening Panel1

Secondary2 Conditions 3

(as of March 2015)

ACMG Code

Secondary Condition

Metabolic Disorder

 

Hemoglobin Disorder

 

Other Disorder

Organic acid condition

Fatty acid oxidation disorders

Amino acid disorders

Cbl C,DMethylmalonic acidemia  with homocystinuriaX    
MALMalonic acidemiaX    
IBGIsobutyrylglycinuriaX    
2MBG2-MethylbutyrylglycinuriaX    
3MGA3-Methylglutaconic aciduriaX    
2M3HBA2-Methyl-3-hydroxybutyric aciduriaX    
SCADShort-chain acyl-CoA dehydrogenase deficiency X   
M/SCHAD

Medium/short-chain L-3-hydroxyacl-CoA

dehydrogenase deficiency

 X   
GA2Glutaric acidemia type II X   
MCATMedium-chain ketoacyl-CoA thiolase deficiency X   
DE RED2,4 Dienoyl-CoA reductase deficiency X   
CPT IACarnitine palmitoyltransferase type I deficiency X   
CPT IICarnitine palmitoyltransferase type II deficiency X   
CACTCarnitine acylcarnitine translocase deficiency X   
ARGArgininemia  X  
CIT IICitrullinemia, type II  X  
METHypermethioninemia  X  
H-PHEBenign hyperphenylalaninemia  X  
BIOPT (BS)Biopterin defect in cofactor biosynthesis  X  
BIOPT (REG)Biopterin defect in cofactor regeneration  X  
TYR IITyrosinemia, type II  X  
TYR IIITyrosinemia, type III  X  
Var HbVarious other hemoglobinopathies   X 
GALEGalactoepimerase deficiency    X
GALKGalactokinase 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.