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Disorders Screened in New Jersey

In accordance with Chapter 24 of the Public Laws of 1988 (N.J.S.A. 26:2-110 and N.J.S.A. 26:2-111, New Jersey Administrative Code, Title 8, Department of Health, Chapter 18, Newborn Biochemical Screening Program), New Jersey has expanded its statewide system of newborn biochemical testing to include a total of 54 disorders, which, if not detected early, can cause severe health problems, interfere with mental development or even cause death.


New Jersey Newborn Biochemical Screening Program Disorders

Disorder Name

Abbreviation

Fatty Acid Oxidation Disorders

2,4 Dienoyl-CoA reductase deficiency

DE RED

Carnitine palmitoyltransferase I deficiency

CPT IA

Carnitine palmitoyltransferase II deficiency

CPT II

Carnitine acylcarnitine translocase deficiency

CACT

Carnitine uptake defect/Carnitine transport defect

CUD

Glutaric acidemia type II

GA II

Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency

LCHAD

Long-chain acyl-CoA dehydrogenase deficiency

LCAD

Medium/Short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency

M/SCHAD

Medium-chain acyl-CoA dehydrogenase deficiency

MCAD

Medium chain ketoacyl-CoA thiolase deficiency

MCAT

Short-chain acyl-CoA dehydrogenase deficiency

SCAD

Trifunctional protein deficiency

TFP

Very long-chain acyl-CoA dehydrogenase deficiency

VLCAD

Organic acidemia Disorders

2-Methyl-3-hydroxybutyric aciduria

2M3HBA

2-Methylbutyrylglycinuria

2MBG

3-Hydroxy-3-methylglutaric aciduia

HMG

3-Methylcrotonyl-CoA carboxylase deficiency

3MCC

3-Methylglutaconic aciduria

3MGA

beta-Ketothiolase deficiency

BKT

Glutaric acidemia type I

GA I

Isobutyrylglycinuria

IBG

Isovaleric acidemia

IVA

Malonic acidemia

MAL

Methylmalonic acidemia - Cobalamin A, B Disorders

CBL A,B

Methylmalonic academia with homocystinuria - Cobalamin C, D Disorders

CBL C,D

Methylmalonic acidemia – Methylmalonyl-CoA Mutase

MUT

Holocarboxylase synthase deficiency

MCD

Propionic acidemia

PROP

Amino Acid & Urea Cycle Disorders

Argininemia  

ARG

Argininosuccinic aciduria

ASA

Benign hyperphenylalaninemia

H-PHE

Biopterin defect of cofactor biosynthesis

BIOPT (BS)

Biopterin defect of cofactor regeneration

BIOPT (REG)

Citrullinemia, type I

CIT I

Citrullinemia, type II

CIT II

Homocystinuria

HCY

Hypermethioninemia

MET

Maple syrup urine disease

MSUD

Classic phenylketonuria

PKU

Tyrosinemia, type I

TYR I

Tyrosinemia, type II

TYR II

Tyrosinemia, type III

TYR III

Endocrine Disorders

Congenital adrenal hyperplasia

CAH

Primary congenital hypothyroidism

CH

Metabolic Disorders

Biotinidase deficiency

BIOT

Classic galactosemia

GALT

Galactoepimerase deficiency

GALE

Galactokinase deficiency

GALK

Other Disorders

Cystic fibrosis

CF

Hemoglobin S/Beta-thalassemia

Hb S/β Thal

Hemoglobin S/C disease

Hb S/C

Other Hemoglobinopathies

Var Hb

Hemoglobin S/S Disease (Sickle cell anemia)

Hb S/S

Babies with abnormal screening results are aggressively followed by the Newborn Screening and Genetic Services Program in Special Child Health and Early Intervention Services to ensure that affected children and their families are linked with a primary care provider and the regional network of specialty care centers to receive timely and appropriate services.

Early identification of all disorders screened in the newborn period is only the first step in a successful newborn screening program. Additional resources and funding to ensure immediate access to confirmatory testing, follow-up, and assurance of appropriate and comprehensive treatment services are also required. Consultants have been identified to provide comprehensive services for the various disorders and state funding has been committed to provide a statewide safety net of pediatric metabolic treatment centers, cystic fibrosis care centers, sickle cell programs, endocrine specialists and regional biochemical genetics laboratories.

Additionally, affected children must be reported to the Special Child Health Services Registry which will further link the family to community-based, culturally competent, comprehensive case management and early intervention services.

If you have any questions or need additional information, please contact:

Lorraine Freed Garg, MD, MPH
E-mail: Lori.Garg@doh.state.nj.us
Medical Director
New Jersey Department of Health
Special Child Health and Early Intervention Services
Newborn Screening and Genetic Services Program
P.O. Box 364
Trenton, New Jersey 08625-0364
phone # (609) 984-0755

Scott M. Shone, Ph.D
E-mail: scott.shone@doh.state.nj.us
Research Scientist 1/Program Manager
New Jersey Department of Health
Newborn Screening Laboratory
Division of Public Health Infrastructure, Laboratories and Emergency Preparedness
P.O. Box 371
Trenton, New Jersey 08625-0371
phone # (609) 530-8361

More information for parents can be found on the following web sites:
www.babysfirsttest.org
www.newbornscreening.info/Parents/facts.html

More information for health care professionals can be found on the following web sites:

The American College of Medical Genetics  http://www.acmg.net
[Look for blue ‘ACT Sheet’ button under ‘Shortcuts’ on left side of this home page.]

Genetics Home Reference from the National Library of Medicine  http://ghr.nlm.nih.gov/nbs

Updated on 6/14/2013


Department of Health

P. O. Box 360, Trenton, NJ 08625-0360
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Last Modified: Monday, 28-Jul-14 09:35:09