The field of human genetic diagnostics is constantly developing. New medical and scientific insights may lead to genetic variants being interpreted differently today than at the time of the original report.
With our 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.
The reassessment service is free of charge and can be requested for all unresolved postnatal, non-predictive germline analyses performed at the exome or genome level.
What We Offer with This Service
Our Promise to You
What Does the Service Involve?
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
This service is available once, free of charge, for all previously unresolved postnatal, non-predictive germline analyses at the exome or genome level. The Reassessment Service can be requested no earlier than 12 months and no later than 5 years after issuance of the original report.
Sample Report
How to Request the Reassessment Service
If you, as the responsible physician, would like to initiate a reassessment, you can submit the request easily via the myCeGaT portal. To process your request, we require the following information:
- Your contact details
- The CeGaT ID and the report ID of the existing report
Both IDs can be found on the first page of the CeGaT report in the grey box in the upper right corner. For older reports, the report ID may not be listed there. In these cases, you can use the document ID shown in the footer instead.
Once you have submitted the request via the myCeGaT Portal and it meets the criteria for a reassessment, you will receive an updated documetation or, in the case of new medical evidence, an updated report. Processing time is usually 2 to 4 weeks after we have received all the required information.
Please note:
If there has been a change or extension of symptoms, we do not recommend a reassessment. In such cases, a fully new analysis of the existing data is more appropriate. Additional costs may apply.
Frequently Asked Questions About the Reassessment Service
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Do you have a question, or are you interested in our service?
Diagnostic Support
We will assist you in selecting the diagnostic strategy – for each patient.
