World’s Most Comprehensive Whole Genome Sequencing Solution Diagnoses Rare and Neurodegenerative Diseases

Diagnosing rare and neurodegenerative diseases can be challenging, even for experienced physicians. Patients often endure a diagnostic journey that spans years and multiple misdiagnoses before receiving an accurate diagnosis. Now, the world’s most comprehensive whole genome sequencing solution for rare and neurodegenerative diseases integrates state-of-the-art technology and an efficient CE-IVD bioinformatics pipeline with a vast biodatabank of around 700,000 patients from over 120 diverse countries. This approach can significantly save time and resources by eliminating the need for stepwise testing, allowing healthcare professionals to deliver quick and reliable diagnoses and identify treatment options.

Centogene N.V. (Rostock, Germany) has introduced NEW CentoGenome, an advanced Next Generation Sequencing (NGS)-based assay. With NEW CentoGenome, healthcare professionals can offer more comprehensive diagnostic information, potentially accelerating access to treatment options. As a first-line test, NEW CentoGenome is the most extensive commercially available Whole Genome Sequencing (WGS) test for both rare and neurodegenerative disorders. It covers nearly all disease-causing variants, including the most relevant repeat expansions linked to neurological diseases, in a single assay. NEW CentoGenome also detects Copy Number Variations (CNVs) associated with Spinal Muscular Atrophy (SMA) and complex disease-causing variants related to Gaucher Disease (GD) and susceptibility to GBA1-related Parkinson's Disease (PD), with exceptional sensitivity.

The newly-designed WGS assay utilizes a Polymerase Chain Reaction (PCR)-free approach, significantly reducing the typical bias induced by PCR and offering higher quality sequencing data across challenging genome regions. This is achieved by enabling more uniform coverage and superior performance in variant detection. The assay's superior performance is supported by CENTOGENE's automated CE-IVD bioinformatics pipeline and medical expert-based analysis of the CENTOGENE Biodatabank, which comprises approximately 700,000 patients from over 120 highly diverse countries.

“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,” said Prof. 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.”

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Centogene N.V.

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