New Jersey

State Newborn Screening Panel

2,4 Dienoyl-CoA reductase deficiency
2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy-3-methylglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine uptake defect/carnitine transport defect
Citrullinemia, type I
Citrullinemia, type II
Classic galactosemia
Classic phenylketonuria
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Galactoepimerase deficiency
Galactokinase deficiency
Glutaric acidemia type I
Glutaric acidemia type II
Hearing loss
Holocarboxylase synthase deficiency
Homocystinuria
Hypermethioninemia
Isovaleric acidemia
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia with homocystinuria- Cobalamin C, D disorders
Methylmalonic acidemia- cobalamin A,B disorders
Methylmalonic acidemia- methylmalonyl- CoA mutase
Mucopolysaccharidosis 1
Pompe
Primary congenital hypothyroidism
Propionic acidemia
S. Beta-thalassemia
S. C Disease
S.S. Disease (Sickle cell anemia)
Severe combined immunodeficiencies
T-cell related lymphocyte deficiencies
Trifunctional protein deficiency
Tyrosinemia, type I
Tyrosinemia, type II
Tyrosinemia, type III
Various other hemoglobinopathies
Very long-chain acyl-CoA dehydrogenase deficiency

Contacts and Support

State Newborn Screening Program

Newborn Screening and Genetic Services

Phone: 609-292-1582

FAX: 609-292-1732; 609-943-5752

Email: Karyn.dynak@doh.nj.gov

Newborn Screening and Genetic Services Website

Critical Congenital Heart Disease Screening

New Jersey CCHD Program

Phone: 609-292-5676

Email: mary.knapp@doh.nj.gov

Early Hearing Detection and Intervention

New Jersey EHDI Program

Phone: 609-292-5676

Phone (alt.): 609-984-1343

FAX: 609-633-7820

Email: EHDI@doh.nj.gov

Additional Resources

For a listing of general support, advocacy, and informational resources for Newborn Screening, visit the Resources page.

Date Last Reviewed:

November 2020

Breadcrumb