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 (PDF - 64 KB)
SACHDNC Recommended Uniform Screening Panel1
Core2 Conditions3
(as of May 2011)
ACMG Code |
Core |
Metabolic Disorder |
Endo- |
Hemo- |
Other |
||
Organic acid condition |
Fatty |
Amino |
|||||
PROP |
Propionic academia |
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 |
|
|
|
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 |
CF |
Cystic fibrosis |
|
|
|
|
|
X |
GALT |
Classic galactosemia |
|
|
|
|
|
X |
HEAR |
Hearing loss |
|
|
|
|
|
X |
SCID |
Severe Combined Immunodeficiencies |
|
|
|
|
|
X |
- 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).
- Disorders that should be included in every Newborn Screening Program
- 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
SACHDNC Recommended Uniform Screening Panel1
Secondary2 Conditions3
(as of March 2011)
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-hydroxyacl-CoA |
|
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 |
|
|
TRY 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 |
- 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).
- Disorders that can be detected in the differential diagnosis of a core disorder
- 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