NEW YORK – Public Health England has chosen PerkinElmer as a provider of a newborn screening test for severe combined immunodeficiency (SCID) as part of a collaboration with Public Health England's SCID evaluation program, the company said on Friday.
Public Health England will use PerkinElmer's Victor EnLite instrument and EnLite Neonatal TREC kit at three of six sites to evaluate screening newborns for the rare inherited genetic disease, sometimes called "Bubble Boy" disease.
SCID is caused by a severe defect in the immune system, making it difficult to fight off infections. It can be fatal, though if detected at birth before symptoms appear, it can be treated and cured.
The Victor Enlite Instrument and EnLite Neonatal TREC kit is designed to detect T-cell receptor excision circles (TRECs) — small DNA circles that are created as T cells rearrange their receptor genes while passing through the thymus — semi-quantitatively. The test can identify newborns for diagnostic confirmatory testing, while the kit reduces the number of steps and manual work required by current laboratory tests for SCID, PerkinElmer said.
The EnLite Neonatal TREC assay uses a dried blood spot and leverages PCR-based nucleic acid amplification and time-resolved fluorescence resonance energy transfer (TR-FRET) technology.
The program will assess the possibility of widespread screening of SCID in newborns 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 General Manager for Reproductive Health Petra Furu said in a statement.