Att E - Recommended Screening Panel

Recommended Uniform Screening Panel
2
3
Core Conditions
(as of December 2011)

1

Metabolic Disorder
ACMG
Code

PROP

Core Condition

Propionic acidemia

ßKT

Methylmalonic acidemia
(methylmalonyl-CoA mutase)
Methylmalonic acidemia
(cobalamin disorders)
Isovaleric acidemia
3-Methylcrotonyl-CoA
carboxylase deficiency
3-Hydroxy-3-methyglutaric
aciduria
Holocarboxylase synthase
deficiency
ß-Ketothiolase deficiency

GA1

Glutaric acidemia type I

MUT
Cbl A,B
IVA
3-MCC
HMG
MCD

Organic
acid
condition

Fatty acid
oxidation
disorders

Amino
acid
disorders

X
X
X
X
X
X
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

VLCAD
LCHAD

Other
Disorder

X

TFP

MCAD

Hemoglobin
Disorder

X

Carnitine uptake defect/carnitine
transport defect
Medium-chain acyl-CoA
dehydrogenase deficiency
Very long-chain acyl-CoA
dehydrogenase deficiency
Long-chain L-3 hydroxyacyl-CoA
dehydrogenase deficiency
Trifunctional protein deficiency

CUD

Endocrine
Disorder

X
X
X
X
X

CAH

Primary congenital
hypothyroidism
Congenital adrenal hyperplasia

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
Severe combined
immunodeficiences

X

CH

SCID

X
X

X

1. Selection of conditions based upon “Newborn Screening: Towards a Uniform Screening Panel and System.” Genetic Med. 2006; 8(5) Suppl: S12S252” 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 Panel
2
3
SECONDARY CONDITIONS
(as of December 2011)

1

Metabolic Disorder
ACMG
Code

Secondary Condition

Organic
acid
condition

MAL

Methylmalonic acidemia with
homocystinuria
Malonic acidemia

IBG

Isobutyrylglycinuria

X

2MBG

2-Methylbutyrylglycinuria

X

3MGA

3-Methylglutaconic aciduria

X

2M3HBA

2-Methyl-3-hydroxybutyric aciduria

X

Cbl C,D

SCAD
M/SCHAD
GA2
MCAT
DE RED
CPT IA
CPT II
CACT

Short-chain acyl-CoA dehydrogenase
deficiency
Medium/short-chain L-3-hydroxyacl-CoA
dehydrogenase deficiency
Glutaric acidemia type II
Medium-chain ketoacyl-CoA thiolase
deficiency
2,4 Dienoyl-CoA reductase deficiency
Carnitine palmitoyltransferase type I
deficiency
Carnitine palmitoyltransferase type II
deficiency
Carnitine acylcarnitine translocase
deficiency

Fatty acid
oxidation
disorders

Hemoglobin
Disorder

Other
Disorder

Amino
acid
disorders

X
X

X
X
X
X
X
X
X
X

ARG

Argininemia

X

CIT II

Citrullinemia, type II

X

MET

Hypermethioninemia

X

H-PHE
BIOPT
(BS)
BIOPT
(REG)
TYR II

Benign hyperphenylalaninemia

X

Biopterin defect in cofactor biosynthesis

X

Biopterin defect in cofactor regeneration

X

Tyrosinemia, type II

X

TYR III

Tyrosinemia, type III

X

Var Hb

Various other hemoglobinopathies

GALE

Galactoepimerase deficiency

X

GALK

Galactokinase deficiency

X

T-cell related lymphocyte deficiencies

X

X

1. Selection of conditions based upon “Newborn Screening: Towards a Uniform Screening Panel and System.” Genetic Med. 2006; 8(5) Suppl: S12S252” 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.