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An Ultra-Rare Disorder of Immunity Uncovered
Article | Aug 25, 2022
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Defining the Clinical Spectrum of Rare Disorders
Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the […]
One Gene – Two Modes of Inheritance
While most genetic disorders have one clearly defined mode of inheritance, the existence of rare exceptions is being increasingly recognized. A recent diagnostic finding at CENTOGENE revealed that […]
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 […]
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 […]
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 […]
Epidemiology of a Rare Protein Aggregation Disorder
Some genetic disorders are caused by an accumulation of the mutated protein, with hereditary ATTR amyloidosis (hATTR) being a prime example. Therapeutic strategies that target these toxic aggregates […]
Novel Causes for Heart Malformations
An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database - CentoMD® - […]
Personalizing Therapeutic Decisions in Fabry Disease
More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel […]
Moving Towards New Therapies for Fabry Disease
Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with […]
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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.