PerkinElmer has introduced its ultrarapid whole genome sequencing (urWGS) services through PerkinElmer Genomics, expanding the company’s portfolio of whole-genome sequencing offerings. The urWGS offering 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).

urWGS uses a dried blood spot sample to provide phenotype-driven analysis with a mean coverage of 40x a patient’s genome. Studies suggest that up to 15 per cent of disease-causing genetic variants may be found in the non-coding regions of the genome, which WGS helps identify. In addition to an analysis of the mitochondrial genome, copy number variation detection—which identifies deletions, duplications, other genes and chromosomal level events, spinal muscular atrophy, and a repeat disorders screen—the urWGS offering includes a StepOne comprehensive biochemical profile. The StepOne offers screens for more than 70 inherited conditions and disorders, including the recommended universal newborn screening panel as well as many others that may not be found in state-mandated programmes.

Rapid WGS tests have been shown to reduce healthcare costs for patients in NICUs and PICUs. In addition, these testing services include the elimination of unnecessary tests and procedures and reduced length of hospital stays.