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

Printer-Friendly Recommended Uniform Screening Panel (PDF - 168 KB)

 

Recommended Uniform Screening Panel1

Core 2 Conditions 3

(as of April 2013)

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

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 Panel1

Secondary2 Conditions 3

(as of April 2013)

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

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.