PerkinElmer UltraRapid Whole-Genome Sequencing

PerkinElmer has launched its ultrarapid whole-genome sequencing service, which provides physicians with results in five days to help them manage and improve outcomes for patients in neonatal and pediatric intensive care units. The service, being offered through PerkinElmer Genomics, uses a dried blood sample for phenotype-driven analysis with a mean coverage of 40x of a patient’s genome, the Waltham, Massachusetts-based company said. It includes a StepOne Comprehensive Biochemical Profile, which screens for more than 70 inherited conditions and disorders including the recommended universal newborn screening panel. The service also provides analysis of the mitochondrial genome; CNV detection to identify deletions, duplications, and other gene- and chromosomal-level events; and a spinal muscular atrophy and repeat disorders screen.