What we do

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.

 

Process

From start to finish, the genetic testing process followed by Blueprint Genetics is not only very fast and efficient, it’s also very accurate due to the extreme care and check performed throughout.

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Technology

We pioneer new technologies to bring you life-changing genetic knowledge. OS-Seq targeted NGS technology has made genetic testing so quick and cost-efficient that you can realistically choose it 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

Nucleus offers the possibility to place orders for genetic testing, follow progress, and read results. Nucleus also provides a feature, Connecting Clinicians, that connects clinicians based on variants, for knowledge sharing and further collaboration.

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