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.


Over half of epilepsy cases are believed to be caused by one or more genetic factors. We are very proud of our 379 gene comprehensive epilepsy panel to help families find answers. #AES2019 booth #936

Coming in early 2020 we will be offering full mitochondrial genome sequencing that can be added to any of our panels for no additional cost! Read more here or stop by booth #936 to learn more! #AES2019

We are excited to be attending #AES2019 in Baltimore! We’ll be at booth #936 throughout the conference- be sure to stop by and hear about the latest updates to our panels, quality, and accessibility! #GeneticsKnowledge #Genetics