ExomeXtra® is CeGaT’s advanced exome-based service for complex genetic questions, especially in rare disease diagnostics and research. It combines the depth of whole exome sequencing with selected genome-wide information and genome-wide detection of deletions and duplications at array-CGH resolution. This integrated approach is designed to close diagnostic gaps that standard exome sequencing or standard genome sequencing may leave open. Depending on the case, Trio ExomeXtra®, Single ExomeXtra®, ExomeFocus® or Prenatal ExomeXtra® may be suitable options. Additional services such as ACMG gene analysis, HLA typing, pharmacogenetics and VUS reassessment can further support clinically relevant interpretation in one structured workflow and report.