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.
Recognition of CENTOGENE’s Scientific Expertise
Editorial board members in scientific journals are selected from the most-respected experts in the field, and the request to write an Editorial on a current topic of general interest is truly an […]
A Potential Link Between COVID-19 and Parkinson’s Disease
The potential consequences of a SARS-CoV-2 infection are only beginning to be understood. A recent case report, involving research carried out at CENTOGENE, describes a patient experiencing rapidly […]
Genetics and Pathophysiology of Premature Aging
Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent study reported mutations in MTX2 as the cause of a novel progeroid syndrome and revealed mitochondrial […]
One Gene – Two Mutational Mechanisms
For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with […]
A Variant-Specific Mutational Effect
A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be […]
Underlining the Diagnostic Superiority of Genome Sequencing
Technological options for genetic diagnostics have evolved rapidly, with genome sequencing (GS) being the latest addition. Evaluating the utility of GS in over 1,000 patients with a wide range of […]
Mechanistic Insights Into Cancer Predisposition
Genetic predisposition to cancer is tightly linked to an increased rate of somatic mutations. For one of the corresponding syndromes, the underlying defect has now been revealed to affect the DNA […]
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 […]
Understanding Parkinson’s Disease on a Global Scale
Current insights into Parkinson’s disease (PD) are largely based on studies in Europe and North America. A recent effort towards establishing a multi-ethnic understanding of PD resulted in intriguing […]
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.