Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, whole exome sequencing examines thousands of genes simultaneously.
Articles on Whole Exome Sequencing
-
Optimizing genetic diagnostics in childhood neurological disease
Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option. In a recent study on 88 children that had been referred to CENTOGENE because of severe neurological phenotypes,…
-
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…
-
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…
-
Delineation of a novel neuro-metabolic syndrome
Neurodevelopmental defects are genetically very diverse, and novel corresponding disease genes continue to be discovered. A recent example is the association between PIGB inactivation and a congenital neuro-metabolic syndrome. The study, which partially built on analyses performed at CENTOGENE, was…
-
Novel neurodevelopmental disorder identified
Numerous genes are important for proper development of the nervous system. As part of an international research team, researchers at CENTOGENE contributed to the identification of a novel cause for impaired neurodevelopment. They identified mutations in SVBP, the protein product of which is…