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
-
Niemann-Pick Type C: Two Genes - Many Clinical Pictures - One Unifying Biomarker
Watch our webinar “Niemann-Pick type C: Two Genes – Many Clinical Pictures – One Unifying Biomarker” hosted by Prof. Peter Bauer. Throughout the webinar, he will provide an overview of this rare genetic disorder and discuss diagnostic methods, such as biomarkers, whole exome sequencing, whole genome…
-
Insights Into an Ultra Rare Disease
Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.
-
A Novel Neurodevelopmental Disorder
Brain development is a highly complex process involving numerous proteins. The latest addition to this list is YIF1B: its absence due to bi-allelic inactivating mutations results in a severe neurological disorder.
-
Frequent Genetic Cause of Seizures Identified
The etiology of seizures is highly heterogeneous and involves an unknown number of distinct genetic disorders. An international team of researchers recently defined recessive mutations in the UGDH gene as a novel and surprisingly frequent cause of seizures and developmental delay. By querying its…
-
CentoLCV – El nuevo estándar para detectar desequilibrios cromosómicos
Mira el webinar sobre CentoLCV™, nuestro nuevo análisis integral de variación de número de copias (CNV), y aprender por qué es el nuevo estándar para establecer diagnósticos moleculares más precisos en comparación con las pruebas convencionales que utilizan microarrays.