With the Reassessment Service, we provide a structured re-evaluation of previously generated sequencing data based on current medical and scientific knowledge. This reassessment helps you clarify cases that could not be resolved during the initial analysis.
Research in human genetics is advancing rapidly. New medical and scientific findings can help clarify cases that could not be solved at the time of the initial analysis.
CeGaT offers a reassessment for all unsolved postnatal, non-predictive germline analyses based on exome or genome sequencing. The reassessment is free of charge. It can be requested between 12 months and 5 years after the original report was issued.
Our Reassessment Service goes beyond the mere re-evaluation of individual variants of uncertain significance (VUS). Instead of only re-examining previously reported variants, the entire spectrum of clinically relevant variants is considered. We select and prioritize these variants based on our in-house developed High-Impact Variant List.
This list comprises medically relevant variants, selected based on multiple criteria, including:
- information from public databases (e.g., HGMD, ClinVar)
- internal updates to variant assessment
- machine learning methods for predicting variant effects
Potentially relevant results are medically assessed by experienced specialists. The result will be communicated to you either as an updated medical report or as a statement on the continued validity of the initial report.
The Reassessment Service supports you in providing the best possible care for your patients. New medical and scientific insights can be directly incorporated into treatment decisions and further medical planning.