US-based PerkinElmer has been selected as a provider of newborn screening test for Public Health England’s Severe Combined Immunodeficiency (SCID) evaluation programme.
The company will provide Public Health England with its VICTOR EnLite instrument and EnLite Neonatal TREC Kit to screen newborn babies at three of six sites as part of the programme.
SCID, also known as ‘Bubble Boy’ disease, is a rare inherited genetic condition caused by a severe defect in the immune system, making it hard or impossible to resist infections.
Although the condition is treatable, it can be fatal if it is not diagnosed in newborns before the symptoms appear.
Treatments include stem cell transplants using cells procured from a family member or donor.
PerkinElmer reproductive health general manager Petra Furu said: “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.
“This programme 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.”
PerkinElmer’s VICTOR EnLite instrument and EnLite Neonatal TREC Kit enable an effective, semi-quantitative determination of T-cell receptor excision circle (TREC).
TREC, a circular DNA structure, is the primary identifiable marker for SCID.
The test provides precise results that can help identify newborns for confirmatory testing, which leads to a diagnosis. The kit workflow, as compared to current laboratory tests, has less manual work involved and is less time-consuming.
Furthermore, PerkinElmer’s extensive newborn screening menu consists of tests for more than 50 recommended conditions.
In October, the company also introduced PG-Seq Rapid non-invasive preimplantation genetic testing for aneuploidy (PGT-A) kit.