Centogene launches new CentoGenome®, world’s most comprehensive whole genome sequencing solution for diagnosis of rare and neurodegenerative diseases

April 2023

Centogene N.V. announced the launch of NEW CentoGenome®, an enhanced Next Generation Sequencing (NGS)-based assay. Healthcare professionals can leverage NEW CentoGenome to provide more comprehensive diagnostic information, which could accelerate access to potential treatment options.

Serving as a first-line test, NEW CentoGenome is the most comprehensive commercially available Whole Genome Sequencing (WGS) test on the market for both rare and neurodegenerative disorders – covering almost all 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 significantly 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.

Prof. Peter Bauer, Chief Medical and Genomic Officer 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.”

Centogene’s NEW CentoGenome – Superior technology with market-leading clinical coverage in a single test

Centogene’s enhanced WGS solution consists of three seamlessly integrated key features:

Advanced Technology for Greater Insights

  • Implementing PCR-free technology to significantly reduce bias and provide high-quality sequencing information for difficult-to-sequence genetic regions – enabling greater insights into coding, regulatory, and intronic regions

Superior Performance for Enhanced Disease Coverage

  • Delivering superior performance in variant detection thanks to Centogene’s automated CE-IVD bioinformatics pipeline and medical expert-based analysis of the Centogene Biodatabank, which consists of approximately 700,000 patients representing over 120 highly diverse countries 

Integrated Variant Reclassification and Confirmatory Testing for a Life-Long Commitment to Patients

  • Demonstrating Centogene’s unique commitment to improving the lives of patients with rare and neurodegenerative diseases, NEW CentoGenome is paired with life-long diagnostic support and a free-of-charge and proactive diagnosis confirmation and reclassification program

To find out more about NEW CentoGenome, visit here.

The link to the article can be found here.