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.
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.
- 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
CentoWebinar – 'Um olhar sobre o poder do sequenciamento completo do genoma'
Ao longo do webinar, nosso convidado Dr. Salmo Raskin, fornecerá uma visão geral do sequenciamento completo do genom (WGS) e compartilhará as percepções de nosso estudo mais recente - revelando […]
Angioedema hereditario (AEH): oculto a simple vista
Mira nuestro webinar sobre 'Angioedema Hereditario (HAE): oculto a simple vista’, donde se proporciona una visión general de este raro trastorno genético y analizarán métodos de diagnóstico, como […]
Hereditary Angioedema (HAE): Hidden in Plain Sight
Watch our webinar, where Dr. Aida M. Bertoli-Avella, Head of Research Data Analysis, Dr. Volha Skrahina, Vice Director Clinical Studies, and Dr. Selen Zülbahar, Clinical Project Manager & Team Leader […]