Massachusetts | Newborn Screening

State Newborn Screening Panel

2-methyl 3-hydroxy butyric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methyl glutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic acidemia
Benign hyperphenylalaninemia
Biotinidase deficiency
Carbamoylphosphate synthetase deficiency
Carnitine palmitoyltransferase IA deficiency (liver)
Carnitine palmitoyltransferase II deficiency
Carnitine uptake defect
Carnitine: acylcarnitine translocase deficiency
Citrullinemia
Citrullinemia type II
Congenital adrenal hyperplasia
Congenital toxoplasmosis
Critical congenital heart disease
Cystic fibrosis
Defects of biopterin cofactor biosynthesis
Defects of biopterin cofactor regeneration
Dienoyl-CoA reductase deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galactosemia
Glutaric acidemia type I
Glutaric acidemia type II
Hb S/C disease
Hb S/β-thalassemia
Hearing loss
Holocarboxylase Synthase Deficiency (Multiple Carboxylase Deficiency- MCD)
Homocystinuria
Hypermethioninemia
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup disease
Medium-chain acyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency
Methylmalonic acidemia: cobalamin A, B
Methylmalonic acidemia: cobalamin C, D
Methylmalonic acidemia: mutase deficiency
Mucopolysaccharidosis type I
Non-SCID primary immunodeficiencies or other conditions associated with low T-cells
Ornithine transcarbamylase deficiency
Phenylketonuria
Pompe Disease, infantile onset
Primary congenital hypothyroidism
Propionic acidemia
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle cell anemia
Spinal muscular atrophy
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Variant Hb-pathies
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy, childhood onset
Zellweger syndrome
β-ketothiolase deficiency

Contacts and Support

State Newborn Screening Program

New England Newborn Screening Program

Phone: 774-455-4600

FAX: 774-455-4657

Email: nbs@umassmed.edu

New England Newborn Screening Program Website

Early Hearing Detection and Intervention

Massachusetts EHDI Program

Phone: 800-882-1435

FAX: 617-994-9822

Email: newborn.hearing@state.ma.us

Massachusetts 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:

June 2025