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.
Novel X-linked Syndrome Identified
Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 […]
Expanding the Genetics of Impaired Neurodevelopment
The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired […]
Continuum of ‘Distinct’ Neurodegenerative Disorders
A neurodegenerative disorder may affect distinct types of nerve cells in a patient-specific manner. This suggests that there is actually a continuum of possible pathologies. A recent case report, […]
Novel Genetic Cause for Absence of Kidneys
Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 […]
A Dx Success Story Showing the Clinical Utility of Genomic Testing as a First-Line Diagnostic Test
Genetic disorders are prevalent in many developing countries, but access to genomic testing is limited. In the frame of a charity testing program, CENTOGENE has provided diagnoses for more than 200 […]
Characterizing a Rare Disease Through a Global Effort
In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily […]
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 […]
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 […]
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 […]
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.