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Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.
New Scientific Publication
An Ultra-Rare Disorder of Immunity Uncovered
Article | Aug 25, 2022
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An Encyclopedia for Mass Spectrometry Lipidomics
Mass spectrometry (MS) is a state-of-the art technique to identify and quantify lipid species. This study analyzed this tool to pave the way to better research and health outcomes for patients around […]
A Multiomic Approach to Diagnosing Patients and Accelerating Treatments
An approach which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders.
Broader Applicability of Rare Disease Biomarker
Biomarkers have the potential to serve numerous purposes (diagnosis, prognosis, monitoring, etc.) when well-characterized in large cohorts of patients and controls. Building on its rich source of […]
Innovative Treatment of a Severe Disease
Exploratory innovative treatments are often pursued and justified in diseases that are associated with fatal outcomes in early childhood. CENTOGENE is proud to have contributed to a pertinent success […]
Improving Diagnostic Options for Rare Diseases
A diagnostic strategy for rare diseases based on a combination of standard laboratory parameters has long been sought after. To help advance this approach, CENTOGENE actively participates in […]
Turning Rare Disease Networks into Knowledge
CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a global network of physicians interested in and aware of this rare metabolic disorder. The fact that CENTOGENE […]
A Novel Therapeutic Concept for Fabry Disease
Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored […]
Large Patient Cohort Enables Insights into a Rare Disease
Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The […]
Successful Monitoring of Gaucher Disease
Biomarkers are key tools in establishing a diagnosis and monitoring rare disorders. The lipid metabolite Lyso-Gb1 has long been known as an excellent diagnostic biomarker. In a recent study, which […]
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Learn More About Our Scientific Topics
MOx represents a multidimensional approach looking at each patient from different angles to combine deep knowledge and insights for a holistic view.
Whole genome sequencing (WGS) identifies almost all changes in a patient’s DNA by sequencing both the entire protein-coding and the non-coding regions of the genome.
Whole Exome Sequencing (WES) is a comprehensive genetic test that identifies changes in a patient's DNA that are causative or related to their medical concerns.
The CENTOGENE Biodatabank – the world’s largest real-world data repository for rare and neurodegenerative diseases.
Biomarkers play a vital role in the diagnosis of diseases as well as monitoring severity, progression, and treatment efficacy.
Next Generation Sequencing (NGS) Panels: Our NGS panel portfolio tests for a wide selection of hereditary genetic conditions. They offer a fast, thorough, and cost-effective diagnostic tool for patients with distinctive clinical features.
Most hematologic disorders have a genetic link – highlighting the importance of quick and comprehensive answers. We have identified genetic variants associated with hematological diseases in more than 300 different genes.
Advances in genetic techniques now enable many important insights into kidney-related diseases. A genetic diagnosis can better classify disease, give information about disease pathogenesis, and suggest time-sensitive options for treatment.
Ear, Nose & Throat
The ear is essential for many of our most basic functions. It is crucial to distinguish between genetic disorders and those caused by environmental factors as early as possible.
Timely detection and diagnosis of heart disorders can lead to enhanced treatment options, help to prevent sudden cardiac death, and improve prognosis.
Many genetic disorders of the bone cause skeletal and joint abnormalities that may seriously interfere with normal growth and development.
Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity.
Identifying genetic causes of infertility facilitates informed decisions and family planning for your patients. With 10% of infertility cases being linked to genetic factors, their detection can provide vital answers.
Genetic testing for hereditary and somatic cancers can provide life-changing results in affected patients and their relatives, accompanied by potential actionable steps for genetic-related cancers.
Genetic testing is becoming an increasingly important tool in determining the cause of hereditary ophthalmologic conditions.
Genetic testing can clearly diagnose many genetic disorders of the brain and nervous system. It can guide decisions towards more effective medical management and treatments.
Genetic testing can help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering from suspected metabolic disorders.