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.

03/06/2026

𝗗𝗶𝗱 𝘆𝗼𝘂 𝗸𝗻𝗼𝘄 𝘁𝗵𝗮𝘁 𝗺𝗼𝘀𝘁 𝗽𝗲𝗼𝗽𝗹𝗲 𝗰𝗮𝗿𝗿𝘆 𝗴𝗲𝗻𝗲𝘁𝗶𝗰 𝗰𝗵𝗮𝗻𝗴𝗲𝘀 𝘄𝗶𝘁𝗵𝗼𝘂𝘁 𝗲𝘃𝗲𝗿 𝗸𝗻𝗼𝘄𝗶𝗻𝗴 𝗶𝘁?

Many people carry genetic changes without knowing it and may have no symptoms, yet can still pass inherited conditions to their children.

Carrier screening helps identify these risks before or during family planning, supporting more informed reproductive decisions.

At CENTOGENE, we work to make genetic insights more accessible for patients and healthcare professionals.

01/06/2026

🚀 Reproductive Carrier Screening Portoflio: Update

We are pleased to introduce CentoScreen Exome, our new reproductive carrier screening solution powered by a Whole Exome Sequencing (WES) backbone.

Designed for low-risk, unaffected individuals and couples with no known family history of genetic disorders, CentoScreen Exome provides a simple and comprehensive approach to carrier screening.

🧬 Three screening options to meet diverse clinical needs:
✓ CentoScreen Exome Focused
• >13,900 variants
• 141 genes
• Available as Solo or Duo
✓ CentoScreen Exome Focused Plus
• >36,000 variants
• 539 genes
• Available as Solo or Duo
✓ CentoScreen Exome
• >55,000 variants
• 1,907 genes
• Available as Solo or Duo

By combining the power of WES with flexible analysis options, CentoScreen Exome helps healthcare professionals and couples gain valuable genetic insights to support informed reproductive decisions.

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. 💜

Adresse

Am Strande 7
Rostock
18055

Telefon

+4938180113416

Webseite

http://www.centogene.com/

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