New England Newborn Screening Program UMASS Medical School

Record last updated 2021/10/14 Comment on this info .Update this info

Contact Information

UMASS Medical School
Contact: Roger B. Eaton, Ph.D., Director
Email Address: nbs@umassmed.edu
Phone: 774-455-4600
Fax: 617-522-2846

Biotech 4, 2nd Floor 377 Plantation Street Worcester, MA 01605
Area Served: Central

Map Location New England Newborn Screening Program

Narrative

Screening includes testing for thirty mandated disorders: PKU, congenital hypothyroidism, biotinidase deficiency, congenital adrenal hyperplasia, galactosemia, hemoglobinopathies, homocystinuria, MSUD (Maple Syrup Urine Disease), congenital toxoplasmosis, and MCAD (medium-chain acyl Co-A dehydrogenase deficiency). In addition, two pilot studies are offered, one for SCID and the other for an additional 5 rare metabolic disorders. Parents choose whether or not they want their baby screened in the pilot studies. Experience has been that >99% of all babies are screened for all pilot conditions. 

Service Types

  • Nursing
  • Outpatient

Program Type

  • Medical

Populations Served

  • Rare disorders/low incidence

Ages Served

  • Birth to 3

Languages Spoken

  • Chinese-Cantonese
  • Haitian-Creole
  • Portuguese
  • Russian
  • Spanish
  • Vietnamese

Additional Information

  • Fees: Personal Funds
  • Licensed By: CLIA