Centogene has launched a next-generation sequencing (NGS)-based assay called NEW CentoGenome as a first-line test to diagnose rare and neurodegenerative diseases.

The rare disease company has designed the whole genome sequencing (WGS) assay to offer more diagnostic information, which could expedite access to potential treatment options.

According to Centogene, a single assay of the new solution can cover nearly all disease-causing variants, including the repeat expansions related to neurological diseases without the need for stepwise testing.

NEW CentoGenome can also identify copy number variations (CNVs) related to spinal muscular atrophy (SMA).

Additionally, it can detect disease-causing variants of Gaucher disease (GD) and susceptibility to GBA1-related Parkinson’s disease (PD) with a high level of sensitivity.

The newly developed WGS assay uses a polymerase chain reaction (PCR)-free methodology for uniform coverage and better variant detection performance across the challenging regions of the genome.

The life science company claimed that this approach reduces bias and offers more sequencing information to generate greater insights into coding, regulatory, and intronic regions.

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 maximized disease coverage.

“Ultimately, this will provide physicians with an unparalleled level of certainty when diagnosing, prognosing, and treating patients.”

The assay uses Centogene’s automated and streamlined CE-IVD bioinformatics pipeline and Biodatabank, which consists of around 700,000 patients, to detect variants easily.

The NEW CentoGenome assay comes with life-long diagnostic support as well as a free and proactive diagnosis confirmation and reclassification programme.

Earlier this week, Centogene extended its partnership with Takeda for the genetic diagnosis of patients with lysosomal storage disorders (LSDs).