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An Ultra-Rare Disorder of Immunity Uncovered
Article | Aug 25, 2022
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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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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MOx represents a multidimensional approach looking at each patient from different angles to combine deep knowledge and insights for a holistic view.
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.
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.
The CENTOGENE Biodatabank – the world’s largest real-world data repository for rare and neurodegenerative diseases.
Biomarkers play a vital role in the diagnosis of diseases as well as monitoring severity, progression, and treatment efficacy.
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.
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.
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.
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.
Timely detection and diagnosis of heart disorders can lead to enhanced treatment options, help to prevent sudden cardiac death, and improve prognosis.
Many genetic disorders of the bone cause skeletal and joint abnormalities that may seriously interfere with normal growth and development.
Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity.
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.
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.
Genetic testing is becoming an increasingly important tool in determining the cause of hereditary ophthalmologic conditions.
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.
Genetic testing can help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering from suspected metabolic disorders.