Identifying the genetic cause of the patient’s disease is the ultimate goal of our Diagnostic Panels. For many diseases the number of potentially disease causing genes is very large. To achieve this goal, we havedeveloped our large panel approach. Sequencing all genes associated with a disease category instead of sequencing only the requested gene set increases the chance of identifying the genetic cause of the patient’s disease significantly. Most diagnostic services providers restrict their sequencing analysis to a small gene set. CeGaT always sequences all gene sets of the large Diagnostic Panel, i.e. hundreds of genes associated with the respective disease category. We have found that 25% of the causative variants are missed when a small gene set is used for analysis!
We offer to expand the analysis to the complete Diagnostic Panel for pathogenic (ACMG class 5) and likely pathogenic (ACMG class 4) variants.