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 - 65 KB)

Recommended Uniform Screening Panel¹
Core² Conditions³
(as of December 2011)

ACMG Code	Core Condition	Metabolic Disorder			Endocrine Disorder	Hemoglobin Disorder	Other Disorder
ACMG Code	Core Condition	Organic acid condition	Fatty acid oxidation disorders	Amino acid disorders	Endocrine Disorder	Hemoglobin Disorder	Other Disorder
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 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
HEAR	Hearing loss						X
SCID	Severe 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 Panel¹Secondary² Conditions ³(as of December 2011)

ACMG Code	Secondary Condition	Metabolic Disorder			Hemoglobin Disorder	Other Disorder
ACMG Code	Secondary Condition	Organic acid condition	Fatty acid oxidation disorders	Amino acid disorders	Hemoglobin Disorder	Other Disorder
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 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
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

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.