Decoding all genes
A genetic variant in a gene causes a rare genetic disease. To maximize the diagnostic yield, all DNA sequences of 20,000 genes can be decoded by whole exome sequencing.
With the advanced sequencing technology, 99.3% of gene regions are decoded on average.
One symptom, many potential diseases
Why do we decode whole genes? Genetic mutations in different genes can cause common symptoms. For example, if a patient has symptoms related to the nervous system, 3,394 diseases with different genetic origins could be the cause.
This is why all 3,394 diseases need to be tested for the diagnosis.
To test all rare genetic diseases and maximize diagnostic yield, we decode all genes.