High quality reporting is a key essential for building a partnership of trust.

What are the basics in our reporting?

  • Clinical anamnesis evaluation
  • Detailed method description
  • Clear results of identified mutations following international best practice guidelines (CMGS / ACMG)
  • Comprehensive medical interpretation with differential diagnostic approaches
  • References to publications supporting the medical and scientific results
  • Recommendations for follow-up analyses for specific diseases

CENTOGENE´s philosophy is more than producing technical data – the extensive interpretation of clinical data delivered with our comprehensive medical reports includes differential diagnostic approaches as well as a detailed interpretation of key findings.

Sequencing analysis has become a valuable approach for diagnostics of rare diseases. The increasing numbers of analysed genes with a not clearly defined phenotype makes a clear, consistent and reproducible classification system mandatory.

Actually, ACMG guidelines defines five classes regarding a Mendelian variant: pathogenic, likely pathogenic, uncertain likely benign and benign (class 1-5). Frequency of the variant, in silico predictions, conservation and published data with clinical information, segregation data or functional analyses etc. have all be to evaluated to classify the variants to the best of the available knowledge at the time of reporting.

As knowledge on variant frequencies dramatically increases year by year, reevaluation of variants is an important step in improving our understanding of disease pathogenicity etc. To strengthen this decisive topic CENTOGENE has created CentoMD® a publicly available mutation database that includes e.g. detailed clinical information, frequency, ethnic background etc. The depth of available information in CentoMD® allows for some variant a pathogenicity call only when CentoMD® is used. This is the basis for the updated classification system CENTOGENE is using, adding class 0 and class 6-7 to the standard ACMG classes. The new categories improves significantly the quality of the process.
Thorough uniform and comprehensive classification of variants based on a highly qualified and standardized curation workflow are hallmarks for the reporting at CENTOGENE. Such an approach guarantees you the best classification and basis for clinical interpretation of newly identified variants, and also ensures that changes in variant classification will be communicated by reclassification reports.

For any questions or comments, do not hesitate to contact us anytime or get in touch
with one of our experts.

Got Some Feedback?