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An Ultra-Rare Disorder of Immunity Uncovered

Article | Aug 25, 2022

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17q23.2q23.3 de Novo Duplication

Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas […]

Article
20 Oct, 2017
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Functional Characterization of Rare RAB12 Variants

Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician's dystonia (MD) and writer's […]

Article
17 Oct, 2017
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VEGF-A Gene Polymorphisms and Responses to Intravitreal Ranibizumab Treatment in Patients with Diabetic Macular Edema

The purpose of this study was to investigate the association between VEGF gene polymorphisms and the responses to treatment with intravitreal ranibizumab (IVR) in patients with diabetic macular edema […]

Article
13 Oct, 2017
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Clinical and Genetic Characteristics of Sporadic Adult-Onset Degenerative Ataxia

The objective of this study is to define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure […]

Article
21 Sep, 2017
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Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia

In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine–adenine–adenine (GAA) trinucleotide repeat expansion in one […]

Article
20 Sep, 2017
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Activation of PKC Triggers Rescue of NPC1 Patient Specific iPSC Derived Glial Cells from Gliosis

Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely […]

Article
6 Sep, 2017
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Reductions in Glucosylsphingosine

Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. […]

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Fluorescent Probes for Selective Protein Labeling in Lysosomes: A Case of α-Galactosidase A

This study demonstrated fluorescent probes for selective protein labeling in lysosomes in a case of α-galactosidase A, contributing further to the knowledge about diagnostics and pathology of Fabry […]

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C26-Ceramide as Highly Sensitive Biomarker for the Diagnosis of Farber Disease

Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly […]

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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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