Our mission is to support health care professionals around the world in finding the best care for patients and families with rare inherited diseases. We do that by delivering answers using fast, affordable, and comprehensive genetic diagnostics. We combine advanced genetic testing with actionable genetic knowledge to provide the most comprehensive diagnostics for all medical specialties.



From start to finish, the genetic testing process followed by Blueprint Genetics is not only fast and efficient, it’s also exceptionally accurate due to the strict quality controls in place during the testing process.

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Blueprint Genetics’ NGS solutions are combined with effective bioinformatics pipeline and interpretation processes enabling quick and cost-efficient genetic testing that you can realistically choose as a diagnostic tool in the initial stages of patient care.

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Clinical statement

The final phase of our all-inclusive process is the geneticist’s statement, supported by the insight of a specialized clinician.

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Variant classification

In genetic diagnostics, variant classification forms the basis for clinical judgment. Blueprint Genetics is dedicated to full transparency in diagnostics and this includes our variant classification strategy.

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For patients

Genetic testing can provide you with the answers you and your physician are searching for to help make decisions about your health and future. Find out how genetic diagnostics from Blueprint Genetics can help you and your family.

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Education & Resources

Find our latest publications, white papers, and guides from the “Education & Resource” center.
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Nucleus offers the possibility to place orders for genetic testing, follow a test’s progress, and read results. Nucleus also provides a feature, Connecting Clinicians, which connects clinicians based on variants. Through these connections, clinicians are able to share knowledge and further collaboration. 

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WES guide for patients and families

This guide is meant to give you information about Whole exome sequencing (WES). WES is a test that looks at the genetic information contained in all of our 20,000 genes (and their multiple exons) in one single test. Blueprint Genetics provides the best coverage and quality available in the market for WES.
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Last modified: 04.18.2018