More than 20,000 pages and up to 50 million letters make up the exome chapter

 

This constitutes less than two per cent of the entire genome. But it is the part of the human genetic material which contains 85 per cent of the known disease causing mutations.
This plethora of information will help us to get a better understanding of the mechanisms underlying diseases.


Complex, unspecific symptoms? Uncertain diagnosis?
In these cases, exome sequencing is the method of choice to

  • pinpoint the disease cause,
  • determine appropriate treatment,
  • analyse the risks of recurrence or the probability of patients or their relatives to develop a disease.

Exom diagnostics ejects many genetic variants. For a quick and target-oriented interpretation, we record the clinical picture and the symptoms of the patient and accordingly select all candidate genes that may be suitable for the individual patient case. This requires the know-how of various specialist areas: natural scientists, bioinformaticians and specialists in human genetics therefore work door to door with us.

In order to find disease-causing variants even faster, trioexom diagnostics can be useful. In addition to patient DNA, parents' blood samples are also included in the analysis.
Trio exom diagnostics increases the rate of clarification:

  • More precise identification and interpretation of genes and variants not previously clinically associated with the disease,
  • Detection of new (de novo) mutations,
  • Minimization of the number of variants to be evaluated and avoidance of numerous segregation analyses of individual variants by means of Sanger sequencing.

This makes trio analyses particularly time and cost effective. In addition to the technical generation of sequence data, the competent bioinformatic analysis of the data and the medical interpretation of the proven variants are decisive for results of high clinical benefit.

You benefit from our experience through numerous successfully solved WES cases.