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An Ultra-Rare Disorder of Immunity Uncovered

Article | Sept 1, 2022

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Autosomal Dominant Parkinson's Disease in a Large German Pedigree

Parkinson´s disease (PD) is a common disabling neurodegenerative disorder characterized by bradykinesia, rest tremor, rigidity, and postural instability with a prevalence of 2% in elderly persons. […]

Article
18 Oct, 2011
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An Unusual Neurological Syndrome of Crawling Gait, Dystonia, Pyramidal Signs, and Limited Speech

The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. An unusual neurological syndrome of crawling gait, predominant leg […]

Article
7 Jun, 2011
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Vocal Cord Paralysis and Rapid Progressive Motor Neuron Disease by the I113F Mutation in SOD1 Gene

Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial […]

Article
29 Mar, 2011
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Hereditary Spastic Paraplegia Associated with Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family

Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We […]

Article
28 Feb, 2011
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Juvenile Parkinsonism Associated with Heterozygous Frameshift ATP13A2 Gene Mutation

We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. To our knowledge, this is the youngest reported patient with JP […]

Article
3 Jan, 2011
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Respiratory Disease in Niemann-Pick Type C2 Is Caused by Pulmonary Alveolar Proteinosis

Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient […]

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Ataxia Oculomotor Apraxia Type 2: Course over 27 Years and a Novel Stop Mutation in the Senataxin Gene

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in the senataxin (SETX) gene coding for the ortholog of a yeast DNA/RNA helicase […]

Article
17 Apr, 2009
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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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