Keeping you up-to-date with the most accurate, clear and transparent genetic information
Genetic knowledge constantly grows with new insights in disease gene associations and related pathogenic variants being detected daily.
This makes variant classification and reclassification an ongoing process that consequently can have a life-long impact on patient care & disease management.
In order to reduce the risks and harness the benefits of this rapidly increasing knowledge, we have designed a highly robust and dynamic variant reclassification program that enables us to provide you with the latest and highest quality data for the most up-to-date diagnosis.
Advantages of our variant reclassification program
Proactive notification of every patient affected by the reclassification
Variant data derived from a large and diverse cohort of patients
Stringent data curation and validation process
Reliable diagnosis starts with a robust &
dynamic variant classification
Notifications for all patients affected by reclassification
As soon as new genetic evidence becomes available, it is shared with you. Thanks to our highly robust reclassification process, we reduce the uncertainty for patients and allow for better disease management.
Carrier testing in the NSD1 (OMIM®: 606681) gene. Reclassified from uncertain clinical significance (class 3) to likely pathogenic (class 2).
Added value of biochemical data in the classification process
CENTOGENE’s curated and classified variants in 7 metabolic genes (GAA, GBA, GLA, IDS, NPC1, NPC2 & SMPD1) were compared with ClinVar and HGMD®. The availability of biochemical data in addition to high quality clinical and genetic patient data allowed us to correctly classify variants misclassified in these databases. This prevented patients from the risk of an incorrect diagnosis or having their diagnosis missed altogether.