ExoCare – Whole Exome Sequencing

  • For certain patients the combination of symptoms does not allow the clinician to pinpoint a potential diagnosis. In such challenging cases, often a stepwise diagnostic strategy is chosen, which makes the testing complex, time consuming, costly and often not even conclusive.
  • Furthermore, a delayed diagnosis may have a significant impact on the patient’s treatment and quality of life. exome represents the entirety of all known coding exons of the human genome. Although only comprising %2 – %1 of the genome, a total of %85 of all known disease-causing mutations are estimated to be located in these regions. Therefore, it is often reasonable to perform a targeted exome analysis.
  • Application areas and objectives for exome sequencing are diverse and range from research on population genetics, genetic disorders or rare disease to tumor research.
Whole exome sequencing (WES) identifies changes in a patient’s DNA by focusing on the most informative regions of the genome – the exome.

GeneCare has broad experience in exome sequencing and offers a comprehensive service from DNA extraction from many materials to tailored data analysis. For data analysis, our clients benefit from our longstanding experience in human genetics and expertise in the Reproductive genetics diagnostics field.

When is WES Recommended?

  • For many patients with suspected genetic conditions the combination of symptoms does not allow suspecting specific genetic causes with a  sufficiently high certainty. It is unclear which genes to look at.
  • Therefore, WES may be an affordable first test when the clinical spectrum is diverse and diagnostic answers are likely to be obtained only through sequencing the complete coding region, i.e. the whole exome. WES is also a good follow-on approach after more targeted approaches have been tried already and no causative variant was identified.