New York Newborn Screening Program
Phone: 518-473-7552
FAX: 518-474-0405
Email: nbsinfo@health.ny.gov
New York Newborn Screening Program Website
Total number of conditions screened in this state: 56
2,4-dienoyl-CoA reductase deficiency2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic acidemia, type 1
Adrenoleukodystrophy
Argininemia
Argininosuccinic aciduria deficiency
Beta-ketothiolase deficiency
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine uptake defect
Citrullinemia
Cobalamin A,B cofactor deficiency
Cobalamin C,D cofactor deficiency
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Galactosemia
Glutaric acidemia, type I
Guanidinoacetate methyltransferase deficiency
Hearing loss
Homocystinuria
Human immunodeficiency virus
Hypermethioninemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Malonic aciduria
Maple syrup urine disease
Medium-chain 3-ketoacyl-CoA thiolase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency
Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonyl-CoA mutase deficiency
Mucopolysaccharidosis type I
Multiple acyl-CoA dehydrogenase deficiency
Multiple carboxylase deficiency
Phenylketonuria
Pompe disease
Propionic acidemia
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle cell disease (S/C)
Sickle cell disease (S/S)
Sickle cell trait
Spinal muscular atrophy
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Very long-chain acyl-CoA dehydrogenase deficiency
Last Reviewed 03/01/2023
