Clinical exom is a commercial panel covering 4800 genes (SureSelect Focused Exome; Agilent). It is a catalog-based NGS library where genes were selected according to well defined association with certain human pathologies based on well established databases: HGMD, OMIM and ClinVar.
For whom?
Clinical exom is suitable for diagnostics of rare heritable diseases or diseases with highly heterogenous genetic background.
Gene list: SureSelect_Focused_Exome
Criteria: indication by a Genetic Counsellor (žádanka) and filled-in general guestionaire (will be provided shortly)
Based on the circumstances, biological material of the geneticaly closest family members (father, mother, child) could be asked for. This should help to identify the real causative variant among several possible thanks to segregation analysis.
Price: Covered by Health Insurance - code 94983 (as analysis of 21 - 100 genes) associated with diagnosis (39 600 CZK).