Centogene N.V., a life science provider for data-driven answers in rare and neurodegenerative diseases, announced the launch of an enhanced next-generation sequencing (NGS)-based assay, NEW CentoGenome. 

Healthcare professionals can leverage NEW CentoGenome to provide more comprehensive diagnostic information, which could accelerate access to potential treatment options, the company says.

Serving as a first-line test, NEW CentoGenome is a comprehensive whole genome sequencing (WGS) test on the market for both rare and neurodegenerative disorders—covering many disease-causing variants, including the most relevant repeat expansions associated with neurological diseases, in a single assay. NEW CentoGenome also detects Copy Number Variations (CNVs) associated with spinal muscular atrophy (SMA), as well as complex disease-causing variants associated with Gaucher disease (GD) and susceptibility to GBA1-related Parkinson’s disease (PD), with the highest levels of sensitivity.

The newly designed WGS assay leverages a polymerase chain reaction (PCR)-free approach. This diminishes the typical bias induced by PCR and provides higher-quality sequencing data across the typically challenging regions of the genome by enabling more uniform coverage and superior performance in variant detection.

“As a pioneer of genetic diagnostics, we are committed to enabling access to high-quality diagnostics and ensuring that cutting-edge data analyses are available to support better patient health outcomes,” says Professor Peter Bauer, chief medical and genomic officer at Centogene. “Building on this expertise, CENTOGENE’s enhanced whole genome sequencing is the leading solution on the market, reflecting the latest advanced technologies and unique insights that can’t be found anywhere else to provide maximized disease coverage. Ultimately, this will provide physicians with an unparalleled level of certainty when diagnosing, prognosing, and treating patients.”