Saturday, 25 June 2022

PerkinElmer expands genomic testing services with urWGS

17 May 2022 | News

Latest addition to company’s genomic testing services menu

Image Credit: Shutterstock

Image Credit: Shutterstock

PerkinElmer has announced the availability of ultrarapid whole genome sequencing (urWGS) through PerkinElmer Genomics.

 

This addition to the company’s portfolio of whole-genome sequencing (WGS) offerings provides physicians with comprehensive, meaningful results in five days to help inform clinical management and improve outcomes for critically ill patients in neonatal and pediatric intensive care units (NICUs and PICUs). 

 

The PerkinElmer Genomics urWGS offering uses a dried blood spot sample to provide phenotype-driven analysis with a mean coverage of 40x of a patient’s genome.

 

It includes a StepOne Comprehensive Biochemical Profile. The StepOne offering screens for more than 70 inherited conditions and disorders, including the Recommended Universal Newborn Screening Panel (RUSP) and many others that may not be found in state-mandated programmes.

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