PerkinElmer, Waltham, Mass, has been selected as one of the providers of a newborn screening test for severe combined immunodeficiency (SCID) in collaboration with Public Health England’s SCID evaluation program. Public Health England has agreed to use PerkinElmer’s Victor EnLite instrument and EnLite Neonatal TREC kit at three of six sites as part of an evaluation to screen newborn babies for this rare inherited genetic condition.
Known more commonly as ‘bubble boy’ disease, SCID is a rare disease caused by a severe defect in the immune system, making it difficult or impossible to fight off infections. SCID can be fatal if not detected at birth before symptoms appear. It is treatable, however, 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.
“Our collaboration with Public Health England underscores our global market leadership in offering an expansive menu of innovative newborn screening solutions for a wide range of rare conditions for more than 30 years,” says Petra Furu, PhD, general manager for reproductive health at PerkinElmer. “This program will evaluate the potential to provide widespread access to SCID screening for newborn babies throughout England, helping to ensure timely treatment for a disease that may otherwise go undetected for years and giving babies a better chance at improved health outcomes.”
Screening with PerkinElmer’s Victor EnLite instrument and EnLite Neonatal TREC kit is intended to provide semiquantitative detection of T-cell receptor excision circle (TREC), a circular DNA structure that is the primary identifiable marker for SCID. The test produces accurate results that identify newborns for confirmatory testing, which leads to diagnosis.
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