New York | Newborn Screening

State Newborn Screening Panel

2,4-Dienoyl-CoA reductase deficiency
2-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 cytomegalovirus
Critical congenital heart disease
Cystic fibrosis
Galactosemia
Glutaric acidemia, type I
Guanidinoacetate methyltransferase deficiency
Hearing loss
Holocarboxylase Synthase Deficiency (Multiple Carboxylase Deficiency- MCD)
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
Phenylketonuria
Pompe disease
Primary congenital hypothyroidism
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

Contacts and Support

State Newborn Screening Program

New York Newborn Screening Program

Phone: 518-473-7552

FAX: 518-474-0405

Email: nbsinfo@health.ny.gov

New York Newborn Screening Program Website

Early Hearing Detection and Intervention

New York EHDI Program

Email: beinyehdi@health.ny.gov

New York EHDI Program Website

Additional Resources

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

Date Last Reviewed:

September 2025