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.


What can #genetic diagnostics offer to individuals with #skeletaldysplasia? In our upcoming #webinar on Dec 17, we provide insight into the molecular causes of these conditions and #genetictesting considerations. Sign up here:

Meet us at #AES2020! We are proud to be presenting our poster on #GeneticTesting for pediatric #epilepsy. Join our session on Saturday at 9 AM EST and catch up with our team to continue the discussion. @AmEpilepsySoc #VirtualConference

Interested to order a buccal swab kit for easy sample collection? Visit our website or Nucleus portal to order kits to your clinic or directly to patients’ homes, together with instructions on safe sample collection & shipment back to our lab. Learn more: