PerkinElmer, Inc., a global leader in improving the health and safety of people and the environment, has introduced the first commercially available screening test for Severe Combined Immunodeficiency (SCID). The EnLite Neonatal TREC System expands the newborn screening portfolio of commercially available tests and will be introduced under CE marking, for sale in select countries in Europe and the Middle East.

SCID impacts an estimated one in 50,000 to one in 100,000 newborns globally every year. The disease is a genetic disorder that can reduce lifespan but it can be treated when detected early in newborns. Treatments include bone marrow or cord blood transplant (BMT/CBT) from a family member or donor. PerkinElmer's new SCID screening test provides a benefit over current laboratory tests by reducing steps in the workflow, thus increasing screening efficiency.

Implementing screening for early detection of SCID as part of a newborn screening programme provides a cost benefit compared to the greater costs of managing the disease when detected later. This is due to fewer complications that require prolonged and intensive care as a result of the earlier detection and diagnosis of SCID.

"PerkinElmer has been a global leader in newborn screening for more than 25 years. Our new SCID screening test is the direct result of our extensive expertise, knowledge and commitment to ensuring that newborn screening laboratories have access to the most advanced testing products for improving the health of babies," said Jim Corbett, president, Diagnostics and Life Sciences and Technology, PerkinElmer. "We are pleased to offer this new screening test to many countries in Europe and the Middle East so that they can incorporate it as part of their pre-existing newborn screening programs for early detection of this genetic disorder and timely clinical intervention for improved medical outcomes."

"We have seen that early clinical intervention is key to allowing effective management for patients with Severe Combined Immunodeficiency," said Bobby Gaspar, MD, Ph.D., professor of Paediatrics and Immunology at London's Great Ormond Street Hospital for Children and the UCL Institute of Child Health. "With the availability of PerkinElmer's new test for screening SCID, clinicians will be able to diagnose patients more quickly and precisely, improving quality of life and transplant outcome for newborns affected by this highly debilitating and potentially fatal condition."

Screening through the EnLite Neonatal TREC System is intended to provide accurate results and minimize the number of steps taken towards a SCID diagnosis. The simplified procedure is designed to be cost effective and fit within the existing newborn screening processes that are utilized by laboratories. The test has been designed to minimize manual work and the risk of contamination by reducing the number of transfer steps. The test includes software-aided traceability for the workflow that is intended to improve safety and efficacy in the screening use.

The UCL Institute of Child Health, in partnership with Great Ormond Street Hospital (GOSH), is the largest centre in Europe devoted to clinical and basic research and postgraduate teaching in children's health.