Most of disease-causing mutations occur in the exome. Exome has 1.7 percent of a human genome that encodes proteins. Thus, Whole Exome Sequencing (WES) is:
An exome sequencing study can identify:
Report will be delivered in 8-9 weeks after receiving the samples in our lab
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The tested person carries a mutation in a particular gene. The test should be carried out in the other member of the couple.
A negative result indicates that the person doesn’t carry any of the mutations studied.
There is still a small risk of carrying another mutation not analyzed by the test.