Newborn Screening Services

The outcomes for children impacted by serious conditions such as phenylketonuria, cystic fibrosis, and spinal muscular atrophy can be improved if the silent condition is detected in a blood sample collected 24-48 hours after birth.

Health care providers need to make the best, most timely care decisions for newborns—but do not have the capacity to perform laboratory testing or the expertise to fully interpret a laboratory’s results.

We’re pioneers in the field of population-based newborn screening. For 60 years, we’ve led its clinical application, unleashing its potential as a tool to inform and enhance pediatric care. As a part of UMass Chan Medical School, our team of experienced faculty-member scientists and researchers remains at the forefront of medical innovation. Our high-quality screening and thorough clinical follow-up procedures can help prevent or minimize the effects of disabling, life-limiting, and sometimes fatal disorders. Our clients receive the tools to communicate laboratory results, recommend next steps to medical providers, and effectively engage their tiniest patients in appropriate medical care when needed.

1. 1

   Our team is a nationally recognized leader in newborn screening research, offering extensive clinical knowledge and expertise.

2. 2

   We pioneer approaches, such as next-generation sequencing, to help clients enhance their newborn screening panels and best meet their population needs.

3. 3

   Our extensive follow-up supports range from additional testing to referrals, ensuring that screening results inform care.