Whole Exome Sequencing (WES)
Whole exome sequencing is a genetic test that looks closely at the parts of your DNA that contain instructions for how your body works. These sections are called exons, and together they make up the exome. Our exons are the working part of the genes. Most known disease-causing genetic changes are found in these areas, which is why WES can be so helpful.
What Whole Exome Sequencing Can Show
WES can help identify genetic changes that may explain:
It does this by analysing thousands of genes at once, rather than testing one gene at a time. WES can sometimes provide answers that help with diagnosis, management, and family planning.
Things to Be Aware Of
WES can also produce uncertain results known as Variants of Uncertain Significance (VUS), which we do not fully understand.
WES can also reveal unexpected information known as incidental findings. Incidental findings are not linked to your current symptoms and may relate to a different health condition, or may have implications for your future health.