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An Ultra-Rare Disorder of Immunity Uncovered

Article | Aug 25, 2022

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One Genetic Variant – 52 Patients

Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were […]

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Genetic Causes for Late Onset Neuropathy

Slowly progressive health issues in the elderly are usually equated to a general age-related decline. In some patients, however, these health issues may be manifestations of late onset genetic […]

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2 Nov, 2020
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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 […]

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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 […]

Article
12 Oct, 2020
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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 […]

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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, […]

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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 […]

Article
4 Oct, 2020
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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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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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