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
New Jersey Newborn Screening Laboratory
Phone: 609-530-8371
Email: Miriam.schachter@doh.nj.gov
Total number of conditions screened in this state: 63
2,4 Dienoyl-CoA reductase deficiency2-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 of cofactor biosynthesis
Biopterin defect of 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
Fabry
Galactoepimerase deficiency
Galactokinase deficiency
Gaucher
Glutaric acidemia type I
Glutaric acidemia type II
Hearing loss
Holocarboxylase synthase deficiency
Homocystinuria
Hypermethioninemia
Isovaleric acidemia
Krabbe
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium chain ketoacyl-CoA thiolase deficiency
Medium-chain acyl-CoA dehydrogenase 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
Niemann-Pick
Pompe
Primary congenital hypothyroidism
Propionic acidemia
S. Beta-thalassemia
S. C Disease
S.S. Disease (Sickle cell anemia)
Severe combined immunodeficiencies
Spinal muscular atrophy
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
X-linked adrenoleukodystrophy
Last Reviewed 03/01/2023
