A genetics diagnostics company
offering genetics testing to
a global clinical community


Blueprint Genetics provides comprehensive genetics testing for all medical specialties. Blueprints innovative technologies in human rare diseases enable improved tests with higher quality, lower cost and faster lead time. We offer full transparency to our technology, quality and performance, and analytic validations of our technologies.

Our expert team of geneticists and clinicians together with our AI powered CLINT technology provide top quality clinical interpretation and reports, changing the standards of molecular diagnostics. We are accredited by ISO 15189 and CAP (#9257331), and certified by CLIA (#99D2092375).

Inventure joined Blueprint Genetics in 2014.


A recent paper in #ophthalmology: This comprehensive overview describes the #genetic landscape of inherited #retinaldystrophies in Spain, with a cohort of 6089 individuals. Read more: #geneticknowledge

What steps should laboratories take to try and resolve clinically relevant genes affected by segmental duplications and pseudogenes? Why is it important? Join our #webinar on February 4 to learn more! #geneticknowledge #genetictesting

How are #ophthalmology clinical practices evolving? What role does #genetictesting play? We spoke with Dr Ashvini Reddy from the Athena Eye Institute about the rapidly evolving field of retinal #genetics and how genetic testing impacts her patients.