PerkinElmer_EnLite Neonatal TREC kit miniPerkinElmer, Waltham, Mass, has announced the first commercially available screening test in the United States and Canada for severe combined immunodeficiency (SCID), known as “Bubble Boy” disease. The Victor EnLite and EnLite Neonatal TREC kit has received market authorization from FDA and Health Canada. Available for sale in parts of the Middle East and Europe under the CE marking since 2013, the SCID screening test is now available 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,” says Prahlad Singh, president of diagnostics at 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.”

Affecting an estimated 1 in 58,000 newborns each year, SCID is an inherited genetic condition that makes it extremely difficult to fight off infections. Though potentially fatal if not detected at birth, SCID can be treated and cured if identified and addressed early in newborns. Treatment includes stem cell transplants from a family member or donor. SCID patients diagnosed at later stages generally have less-positive transplant outcomes due to their compromised immune systems.

“Implementing newborn screening for SCID provides a cost benefit compared to the greater costs of managing the condition when detected later,” says Fred Lorey, PhD, newborn screening consultant and member of the US Department of Health and Human Services 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 the Victor EnLite and EnLite Neonatal TREC kit provides an effective, semi-quantitative determination of T-cell receptor excision circle (TREC), a circular DNA structure that serves as the primary identifiable marker for SCID. Designed to fit within the existing newborn screening paradigm, the test simplifies screening by reducing steps and minimizing manual work. The test also eliminates a transfer step to reduce contamination risks. PerkinElmer provides software-aided traceability for workflow, which can improve safety and efficacy in screening use.

For more information, visit PerkinElmer.