In WGS, data analysis and identifying the disease-causing variants among a large number of variants is still a challenge. CentoGenome®, help to diagnose complex and unsolved cases by finding the clinically important variants. CentoGenome® combines the world-class experience in rare disease diagnostics, genomic testing and clinical interpretation.
CentoGenome analysed tens of thousands of clinical genomes or exomes from patients worldwide. This experience and variant information is integrated and reflected in proprietary rare disease data repository, CentoMD®. In combination with a solid anamnesis and description of symptoms, this is the foundation of the high diagnostic rates.
- Detailed evaluation of patient’s clinical information and family history
- Comprehensive data and medical interpretation by experienced professionals
- Clear results of identified variants that can explain the phenotype following international best-practice guidelines (ACMG)
- Recommendations for differential diagnoses or follow-up analyses for specific diseases
- References to publications supporting the medical and scientific results
- Detailed method description
- Optional research findings related to phenotype if the diagnostic results are negative, and/or secondary findings based on ACMG guidelines