PerkinElmer Announces First Commercial Availability of Newborn Screening Test for Severe Combined Immunodeficiency (SCID) in U.S. and Canada

PerkinElmer Now Provides SCID Screening in More than 30 Countries Globally

WALTHAM, Mass.--()--PerkinElmer, Inc., a global leader focused on improving the health and safety of people and the environment, today announced the first commercially available screening test in the United States and Canada for Severe Combined Immunodeficiency (SCID), also known more commonly as “Bubble Boy” disease. PerkinElmer has received market authorization from the FDA and from Health Canada to offer the VICTOR™ EnLite™ and EnLite™ Neonatal TREC Kit.

Since 2013, PerkinElmer’s SCID screening test has been available for sale in select countries in Europe and the Middle East, introduced under CE marking. With the approval of this test in the U.S. and Canada, PerkinElmer now provides SCID screening in more than 30 countries worldwide.

“We are pleased to offer access to our SCID screening test throughout a wide range of geographies globally to help ensure that laboratories can screen newborns with the most advanced testing products available for improving the health of babies,” said Prahlad Singh, President, Diagnostics, PerkinElmer. “As a global market leader in newborn screening for more than 25 years, we are committed to continually expanding our panel of tests for life threatening conditions and helping customers obtain clinically actionable insights for improved medical outcomes.”

SCID is an inherited genetic condition due to a severe defect in the immune system, making it difficult or impossible to fight off infections. It impacts an estimated 1 in 58,000 newborns each year, according to a recent report in the Journal of the American Medical Association. Though SCID can be fatal if not detected at birth before symptoms have begun, it is treatable, and in most cases curable, if found and addressed early in newborns. Treatments include stem cell transplants that use cells obtained from a family member or donor. The medical benefit of identifying SCID in newborns earlier rather than later has been illustrated through several studiesi. SCID patients diagnosed later have a compromised immune system, resulting in less positive transplant outcomesii.

“Implementing newborn screening for SCID provides a cost benefit compared to the greater costs of managing the condition when detected later,” said Fred Lorey, Ph.D., newborn screening consultant and member of the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. “Earlier detection and diagnosis of SCID can result in cost-savings and benefits, due to the fact that earlier-diagnosed infants with SCID require less-intensive clinical care for a shorter period of time.”

Screening with PerkinElmer’s VICTOR EnLite and EnLite Neonatal TREC Kit is intended to provide an effective, semi-quantitative determination of T-cell receptor excision circle (TREC), a circular DNA structure which is the primary identifiable marker for SCID. This test provides accurate results that identify newborns for confirmatory testing which leads to diagnosis. The test is designed to fit within the existing newborn screening paradigm and provides a simplified approach to screening. The kit workflow yields a benefit versus current laboratory tests by reducing steps and minimizing manual work, which helps enhance screening efficiency. The test also reduces contamination risks by eliminating a transfer step. PerkinElmer provides software-aided traceability for workflow, which can improve safety and efficacy in screening use.

PerkinElmer’s comprehensive newborn screening menu includes tests for more than 30 recommended conditions known to have good outcomes when detected and diagnosed early through newborn screening.

To learn more about PerkinElmer’s newborn screening platforms, please click here.

About PerkinElmer, Inc.

PerkinElmer, Inc. is a global leader focused on improving the health and safety of people and the environment. The Company reported revenue of approximately $2.2 billion in 2013, has about 7,600 employees serving customers in more than 150 countries, and is a component of the S&P 500 Index. Additional information is available through 1-877-PKI-NYSE, or at

i Modell, Knaus, Modell (2014): An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenias.

ii Chan et al., 2011; Brown et al., 2011


For PerkinElmer, Inc.
Leanne High, +1-919-863-4375


For PerkinElmer, Inc.
Leanne High, +1-919-863-4375