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An Ultra-Rare Disorder of Immunity Uncovered

Article | Aug 25, 2022

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Genetic Cause of Impaired Neurodevelopment

Development of the nervous system is a complex process, with NEUROG1 being one out of many genes involved. The critical role of this gene was recently confirmed by CENTOGENE, when a patient with […]

Article
12 Jan, 2021
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Exemplifying the High Value of CentoMD®

Rare disease research usually focuses on pathogenic genetic variants. The lack of a disease-association for certain types of variants, however, can also be very telling. Pertinent insights into […]

Article
11 Jan, 2021
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A Rare Genetic Disease in Which Symptoms Naturally Improve

While most genetic disorders progress from mild to severe, a certain form of muscle disease was suggested to represent an exception. However, this was based on observations in only two patients. As a […]

Article
21 Dec, 2020
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Genetic Stratification of Patients with Parkinson’s Disease

While Parkinson’s disease (PD) is clinically homogeneous, it can result from a multitude of genetic and non-genetic causes. Stratifying PD patients accordingly is of utmost importance for focused […]

Article
13 Dec, 2020
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Disturbed Growth Signaling Linked to a Novel Disorder

Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a […]

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An Extended Intellectual Disability Phenotype

Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 […]

Article
4 Dec, 2020
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Defective mRNA Translation and Neurodegeneration

Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers […]

Article
23 Nov, 2020
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Multiomic Solutions

MOx represents a multidimensional approach looking at each patient from different angles to combine deep knowledge and insights for a holistic view.

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WGS

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.

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WES

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.

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Biodatabank

The CENTOGENE Biodatabank – the world’s largest real-world data repository for rare and neurodegenerative diseases.

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Biomarker

Biomarkers play a vital role in the diagnosis of diseases as well as monitoring severity, progression, and treatment efficacy.

NGS

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.

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Hematology

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.

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Nephrology

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.

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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.

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Cardiovascular

Timely detection and diagnosis of heart disorders can lead to enhanced treatment options, help to prevent sudden cardiac death, and improve prognosis.

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Osteology

Many genetic disorders of the bone cause skeletal and joint abnormalities that may seriously interfere with normal growth and development.

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Dysmorphology

Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity.

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Reproductive Health

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.

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Oncology

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.

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Ophthalmology

Genetic testing is becoming an increasingly important tool in determining the cause of hereditary ophthalmologic conditions.

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Neurology

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.

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Metabolic Disorders

Genetic testing can help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering from suspected metabolic disorders.

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