We are a genetic knowledge company.

We provide comprehensive genetic diagnostics for all medical specialties.

See more

We offer over 400 tests covering more than 2000 genes, Targeted NGS panels, Del/Dup CNV analysis, Whole Genome CNV and combinations of tests.

See all tests

“The genetic services of Blueprint Genetics were highly professional. Their results came in due time, together with a thorough and insightful interpretation, reflecting high professional standards. We were very pleased with this collaboration and wish to continue it.”

Dr. R.Jurcut, cardiologist, cardiomyopathy expert


See all news


ARVO 2016

The Annual Meeting of the Association for Research in Vision and Ophthalmology

1 – 4 May 2016

Washington State Convention Center, Pike Street, Seattle, WA, United States

The Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) is the largest gathering of eye and vision researchers in the world, attracting over 11,000 attendees from more than 75 countries. About 45% of our attendees are from outside the U.S. The theme of the ARVO 2016 …

Read more

See all events


Whole Genome CNV

The best first line genetic diagnostic product for patients with clinical suspicion of large chromosomal abnormalities or microdeletion/microduplication syndromes.

Blueprint WG-CNV provides essentially better resolutions than array-based techniques and allows a possibility of mapping the exact CNV location.


Read more

Come meet us at our next event



Read more

Plus Analysis

Combining Sequence Analysis and Del/Dup (CNV) Analysis

Highest diagnostic yield for disorders that may be detectable by either Sequence Analysis or by Del/Dup (CNV) Analysis.

Read more

Get our latest updates directly to your mailbox.