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An Ultra-Rare Disorder of Immunity Uncovered

Article | Aug 25, 2022

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Discover our Publications

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 […]

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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 […]

Article
25 Sep, 2020
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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 […]

Article
19 Sep, 2020
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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 […]

Article
10 Sep, 2020
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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 […]

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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 […]

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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 […]

Article
27 Aug, 2020
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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 […]

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26 Aug, 2020
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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 […]

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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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