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
Carbamoyl phosphate synthetase 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 hypothyroidism
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
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
Multiple carboxylase deficiency
Non-SCID primary immunodeficiencies or other conditions associated with low T-cells
Ornithine transcarbamylase deficiency
Phenylketonuria
Pompe Disease, infantile onset
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:

December 2022