Centogene has introduced a new and enhanced next-generation sequencing (NGS)-based assay for the diagnosis of rare and neurogenerative diseases.

Dubbed NEW CentoGenome, the NGS-based assay will enable access to more comprehensive diagnostic information.

The key features of the NEW CentoGenome include advanced technology for improved insights, better performance for enhanced disease coverage and integrated variant reclassification and confirmatory testing.

It is claimed to be the world’s most comprehensive commercially available whole-genome sequencing (WGS) tool for the diagnosis of both rare and neurodegenerative disorders.

The tool can cover almost all disease-causing variants including repeat expansions linked with neurological diseases, in a single assay.

Centogene chief medical and genomic officer Peter Bauer said: “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.

“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 maximised disease coverage.”

The NEW CentoGenome can be used as a first-line genetic testing solution to achieve molecular diagnosis in patients with suspected genetic diseases.

It provides enhanced detection of copy number variations linked with spinal muscular atrophy and disease-causing variants associated with Gaucher disease as well as susceptibility to Parkinson’s disease associated with GBA1 mutations.

Leveraging a polymerase chain reaction (PCR)-free approach, the WGS assay significantly lowers the typical bias induced by PCR.

With comprehensive and more uniform-genome coverage, along with better performance in variant detection, the assay offers improved sequencing data quality across the difficult-to-sequence regions of the genome.