PerkinElmer has been selected as one of the providers of a newborn screening test for PHE’s SCID evaluation initiative
PerkinElmer has collaborated with Public Health England’s (PHE) on Severe Combined Immunodeficiency (SCID) evaluation programme.
The company has been selected as one of the providers of a newborn screening test for PHE’s SCID evaluation initiative.
PHE will us PerkinElmer’s VICTOR EnLite instrument and EnLite Neonatal TREC Kit at three of six sites to screen newborn babies for a rare inherited genetic condition.
SCID, which is commonly known as Bubble Boy disease, is caused due to a severe defect in the immune system.
VICTOR EnLite instrument and EnLite Neonatal TREC Kit will help in the semi-quantitative determination of T-cell receptor excision circle
The VICTOR EnLite instrument and EnLite Neonatal TREC Kit will be used for screening to offer a better and semi-quantitative determination of T-cell receptor excision circle (TREC), a circular DNA structure that serves as a primary identifiable marker for SCID.
According to PerkinElmer, the test delivers precise results that detect newborns for confirmatory testing which leads to a diagnosis. It offers a simplified approach to screening.
Compared to current laboratory tests, the kit workflow helps to reduce steps and minimise manual work, enabling to enhance screening efficiency.
PerkinElmer’s comprehensive newborn screening menu is comprised of tests for over 50 recommended conditions.
PerkinElmer reproductive health general manager Dr 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 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.”
In October 2019, PerkinElmer introduced PG-Seq Rapid non-invasive preimplantation genetic testing for aneuploidy (PGT-A) kit.