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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Novel Genetic Cause for Neurodevelopmental Defects
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at…
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Disturbed lipid metabolism causes congenital disease
Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link. Genetic screening revealed that inactivation of the enzyme sphingomyealinase-3 results in prenatal abnormalities, and in vitro studies defined the underlying pathophysiology. The study,…
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Gaucher Disease – Update on diagnosing and therapy monitoring
Knowing Gaucher Disease (GD), the most common lysosomal storage disorder, is crucial when being faced with unspecific abnormalities in many organs like brain, liver, spleen and bones. Right at Gaucher Disease Awareness Month, we will host the next webinar “Gaucher Disease: beyond the paradigms based…
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Enfermedad de Gaucher – Enfoque en el diagnóstico y seguimiento de la terapia
Conocer la enfermedad de Gaucher (EG), el trastorno de almacenamiento lisosomal más común, es crucial cuando su paciente presenta anormalidades inespecíficas en diversos órganos como cerebro, hígado, bazo y sistema óseo. Justo el día de la concienciación de la Enfermedad de Gaucher, organizaremos el…
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Novel disease gene discovered
The discovery of novel genetic disorders increasingly relies on large databases and on collaborative international efforts. CENTOGENE is proud to be part of numerous pertinent research endeavors. A recently accomplished corresponding project identified mutations in the PIGB gene as underlying a…