- Solving the Diagnostic Riddle – Diagnosing Heterogeneous Genetic Disorders with Whole Exome Sequencing
Solving the Diagnostic Riddle – Diagnosing Heterogeneous Genetic Disorders with Whole Exome Sequencing
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 graduated from the Free University of Berlin and gained ample experience in human genetics at the Human Genetics Department of Ludwig-Maximilians-Universität of Munich as well as the Medical University of Vienna. Dr. Brandau has an extensive track record in medical and scientific publications.
Dr. Oliver Brandau
Director medical reporting