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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.
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.