All diagnostic results from our panels are automatically entered into our variant reclassification program. This program supports the identification of new genetic evidence. We notify physicians automatically and free of charge if a new classification has an impact on a previous diagnosis.
Lifelong Commitment to Patient Safety Through Systematically Re-Evaluated Classifications
New disease-causing variants are identified every year. Consequently, classifying variants is an on ongoing process. At CENTOGENE, we have a dedicated team of experts who monitor medical literature and update our Bio/Databank accordingly. We use internationally recognized American College of Medical Genetics and Genomics (ACMG) guidelines to evaluate new evidence. We combine it with our patient data to make informed decisions when classifying newly identified genetic variants.
Once a variant is classified, every new observation, whether via internal or external research, is monitored and used to also re-evaluate past classification decisions systematically. New evidence can sometimes suggest a change in diagnosis or treatment. We communicate all re-classification decisions to our referring physicians, and any re-classification affecting a genetic diagnosis is shared as soon as possible.
Advantages of Our Variant Reclassification Program
- Proactive notification of every patient affected by the reclassification
- Based on a unique combination of broad patient data - genetic, biochemical, and clinical
- Variant data derived from a large and diverse cohort of patients
- Stringent data curation and validation process
Reliable Diagnosis Starts With Robust & Dynamic Variant Classification
Added Value of Biochemical Data in the Classification Process
An in-house study that curated and classified variants in 7 metabolic genes (GAA, GBA, GLA, IDS, NPC1, NPC2 & SMPD1) showed that they were misclassified in ClinVar and HGMD®. Our proprietary Bio/Databank, classified them correctly.
All Patients Affected by Reclassification are Notified
Downloads & Resources
Carrier testing in the NSD1 (OMIM®: 606681) gene. Reclassified from uncertain clinical significance (class 3) to likely pathogenic (class 2).
Solving the Diagnostic Riddle – Diagnosing Heterogeneous Genetic Disorders with Whole Exome Sequencing
Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined […]
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