Research & Development | Clinical Testing | Commercial Partnership
Precision Diagnostics Powered by Epigenetics
EpiSign™ is the first-ever and most comprehensive clinically validated test that analyzes genomic DNA methylation using cutting-edge artificial intelligence technologies to diagnose patients with rare diseases.
Global Leaders in Epigenetic Research & Testing
EpiSign™ helps patients and their families find the answers they need to tailor clinical management for rare diseases.
Our Technology
EpiSign™ uses machine learning-based algorithms to discover and identify DNA methylation patterns, or episignatures, associated with specific rare diseases including genetic and environmental exposure disorders. These episignatures are powered by the EpiSign™ Knowledge Database, the world’s largest epigenetic database for rare diseases.
Healthcare providers can utilize the EpiSign™ to determine if their patient has a detectable episignature. Leveraging microarray technology, a patient’s DNA methylation is compared to a growing list of rare diseases with known episignature biomarkers. EpiSign™ is clinically validated through a network of diagnostic labs globally for screening of individuals with suspected rare diseases and to resolve ambiguous genetic findings that are often seen in these patients.
Episign Knowledge Database
127
Current menu provides episignatures for greater than 113 conditions.
140
Current EpiSign v5 classifier includes biomarkers for 126 genes/genetic regions.
Dozens of new conditions are being added annually.
Our Discovery Network
Ongoing collaboration with more than 100 institutions in over 20 countries in a global research effort to expand the clincal impact of EpiSign™ technology.
- Over 125 institutions
- Over 25 countries
- Active research in over 700 rare diseases
- Expand EpiSign™ mapping efforts to 1,000 syndromes in next 5 years
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Our Reason
Two-thirds of patients with rare diseases cannot be diagnosed with standard genetic testing. An accurate diagnosis is the cornerstone of care. Our mission is to provide answers beyond genetics by developing cutting-edge epigenomic diagnostic technologies.
Pioneering Epigenetic Research
Explore our breakthroughs in epigenetics research. Our publications in top scientific journals highlight our role in advancing diagnostic approaches for genetic disorders. With a focus on real-world applications, we’re defining the future of genomic medicine.