Solving the Diagnostic Riddle
Diagnosing Heterogeneous Genetic Disorders with Whole Exome Sequencing
February 28, 2017
3 p.m. CEST
Solving the Diagnostic Riddle: Diagnosing Heterogeneous Genetic Disorders With Whole Exome Sequencing
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, a whole exome sequencing test examines thousands of genes simultaneously.
CentoXome®, CENTOGENE’s whole exome sequencing service, offers a fast and cost-effective one-step solution which involves sequencing the entire coding region.
- Introduction to whole exome sequencing
- Demonstration of “how”, “why” and “when” to use whole exome sequencing
- Usage of HPO terms for patient/syndrome clustering
- Clinical case examples
- Understand why using our whole exome sequencing service (CentoXome®) will support you to increase your diagnostic rates
Dr. Oliver Brandau
Director medical reporting
Dr. Oliver Brandau joined CENTOGENE in March 2015. He studied medicine and graduated […]
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