Whole genome sequencing (WGS) provides the most comprehensive genetic testing available for the detection of rare diseases. It identifies more different types of DNA sequence variation and offers greater sensitivity than any other technology available. It is the superior way to diagnose genetically complex and undiagnosed diseases with the highest level of certainty.
Articles on Whole Genome Sequencing
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Unlocking the Genetics of Seizures
Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe seizure+ syndrome; one of these families was identified at CENTOGENE. The study, which confirms…
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A Novel Disorder of Nerve Cell Communication
Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found to cause a multitude of severe neurological phenotypes.
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Angioedema hereditario (AEH): oculto a simple vista
Mira nuestro webinar sobre 'Angioedema Hereditario (HAE): oculto a simple vista’, donde se proporciona una visión general de este raro trastorno genético y analizarán métodos de diagnóstico, como biomarcadores, secuenciación del exoma completo, secuenciación del genoma completo y análisis de un solo…
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Hereditary Angioedema (HAE): Hidden in Plain Sight
Watch our webinar, where Dr. Aida M. Bertoli-Avella, Head of Research Data Analysis, Dr. Volha Skrahina, Vice Director Clinical Studies, and Dr. Selen Zülbahar, Clinical Project Manager & Team Leader (EHA Project Lead) discuss about Hereditary Angioedema.
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Novel Causes for Heart Malformations
An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database - CentoMD® - identified three patients that carry three different pathogenic variants. This genetic spectrum, along with a…