CENTOGENE

The Rare Disease Company CENTOGENE - transforming genetic data into medical decisions.

We are one of the worldwide leaders in the field of early genetic diagnostics for rare hereditary diseases. A data repository of genetic data from over 115 countries gives us a unique access to epidemiological, clinical and genetic information on hereditary disorders, including oncogenetic indications. We focus exclusively on providing the highest quality, patient-centred service, verified by mult

iple international accreditations (ISO, CAP, CLIA), regular pharmaceutical audits and our outstanding short turn-around times for analysis. We believe our medical expertise is based on cutting-edge technologies including whole exome/genome sequencing, innovative biomarkers and continued R&D. Our mutation database (CentoMD®) is the world’s largest for rare genetic diseases and is pivotal to our high-quality diagnostic reporting and comprehensive medical interpretation. CENTOGENE is a key partner for many high-profile pharmaceutical companies who are active in the orphan drug development.

04/05/2026

🧬 Excited to share that our paper “Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosis” has been published in Genetics in Medicine!

This international collaborative study identified 30 individuals from 22 families carrying heterozygous ZIC1 variants, helping to refine the genotype–phenotype correlation.

🔬 Our findings show that:
• Variants in the last exon are associated with craniosynostosis and brain abnormalities (likely gain-of-function).
• Variants in earlier exons disrupt the zinc finger domain and are linked to neurodevelopmental disorders without craniosynostosis (loss-of-function).

👏 Congratulations to Aida Bertoli Avella for this excellent work and to all collaborators involved.

📄 The poster is now available in Genetics in Medicine.

Science

01/05/2026

What’s new in Oncology? ❤️

Join us on May 5th for a live session with Prof. Florentia Fostira, PhD, Senior Faculty Member at the Human Molecular Genetics Laboratory.

🕐 14.15–15.00 | 📍 Live stream

29/04/2026

What’s new in Neurology? ❤️

Join us on May 5th for a live session with Prof. Dr. Christine Klein, Professor of Neurology and
Neurogenetics at University of Lübeck and member of our Scientific Advisory Team.

🕐 18:30 – 19:00 | 📍 Live stream

27/04/2026

What’s new in cardiology? ❤️
Join us on May 5th for a live session with Bill McKenna, Emeritus Professor at University College London and member of our Scientific Advisory Team.

🕐 13:30–14:15 | 📍 Live stream

# centogene

23/04/2026

📢 Save the Date: CentoAcademy 2026
We are delighted to invite you to join the virtual sessions of CentoAcademy 2026 – The Precision Medicine Summit, a very special event that will bring together international experts.

📍 Live from Rostock, CENTOGENE Headquarters
📅 May 5, 2026

11/04/2026

Today is World Parkinson’s Day—a moment to reaffirm CENTOGENE commitment to advancing Parkinson’s disease diagnosis through genetics and multiomics.

Together, we’re enabling deeper understanding, earlier detection, and more personalized care for patients worldwide.

🎥 Watch our Parkinson’s webinar, now available on demand: https://m.youtube.com/watch?v=cXEoqminT3g

11/03/2026

✨ Introducing the updated CentoCancerHereditary Portfolio 13 cancer‑type–specific panels designed for more precise and personalized care.

🔹 Pan‑Cancer Panel: 160+ genes, now more comprehensive
🔹 Cancer‑Specific Panels: Breast, CNS, Colorectal, Endocrine, Endometrial, Gastric, Hematology, Liver & Biliary, Lung, Ovarian, Pancreatic, Skin, Urology
🔹 Pathway‑Focused Panels: Precision‑driven insights for treatment guidance
🔹 Prevention Panel: For unaffected individuals seeking proactive testing

👉 Explore the new hereditary oncology portfolio on our website

08/03/2026

On International Women’s Day, we celebrate the strength, resilience, and stories of women everywhere.

Through our work at CENTOGENE, we connect with women across many different paths — colleagues, scientists, physicians, partners, and patients — each with their own journey.

Today we are proud to highlight the voices of three inspiring women from our team: Marcia Riboldi, Aida Bertoli, and Eleni Perraki, while also recognizing the many women around the world whose courage, determination, and dreams continue to shape the future of healthcare and family building.

Because every woman. Every story. Every journey, matters.

Happy International Women’s Day. 💜

03/03/2026

We were born to help diagnose patients with rare diseases - it’s in our DNA.
After 20 years of working daily to close the uncertainty gap and provide life-changing answers, we want to hear our patients’ stories first-hand.

Do you have a story to share?

If CENTOGENE has had an impact on your life or someone else’s, please share your story with us.

We would be delighted to share your story during our anniversary celebrations

Celebrating together – Fill out the form (link in bio)

hashtag hashtag hashtag hashtag hashtag hashtagguidingprecisionmedicine

28/02/2026

Today, we are joining the global community in recognizing Rare Disease Day.

Rare Disease are rare, because the individual diseases are rare – but looking at the big picture, the number of patients affected is enormous.

🌍 >350 Million people are suffering from rare disease
🙍 > 7.000 identified rare disease
🧬 80% hereditary caused by a fault in the genome
👶 50% of rare disease affected children
🎂 30% will not see their 5th birthday
👨‍⚕️ 2-3 misdiagnoses
🎯 7 years to diagnose

Every dialogue we initiate, every initiative we support, and every partnership we establish brings us closer to achieving faster diagnoses, more effective treatments and a healthcare system that is truly inclusive for all. This is our daily commitment to a shared mission.

18/02/2026

See you at the Annual Meeting of the American College of Medical Genetics and Genomics in Baltimore 🧬

📅 March 11–13
📍 Booth #316

Stop by to meet our team — and don’t miss Eleni Perraki and Jorge Pintos Basto’s presentations.
See you at !

Adresse

Am Strande 7
Rostock
18055

Telefon

+4938180113416

Webseite

http://www.centogene.com/

Benachrichtigungen

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