Meanwhile, this tool represents future analytical instrument. Nevertheless, it is only a question of time, when this genetical tool invades the routine diagnostic laboratories and that is why we have already included it in our concept.
For whom?
It is dedicated for very special cases. Patient suffers from a disease that seems to have originated geneticaly. However, based on the clinical appearance one cannot associate it with a certain gene.
Criteria: Indication by Genetic Counsellor and a filled-in general guestionaire (will be provided shortly)
Based on the circumstances, biological material lf the geneticaly closest family members (father, mother, child) could be asked for. This should help to identify the real causative variant among large number of several possible thanks to segregation analysis.
Price: At the moment it is not covered by Health Insurance providers; This analysis will thus be directly charged (or offered through research projects).