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Over 220 panels to choose from, now with the ability to customize by adding or removing genes.

Whole Exome Sequencing

Whole Exome Sequencing


Our WES is equipped with a 99.7% sensitivity and >99.99% specificity for SNV detection.

Easy ordering and networking platform for clinicians

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“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


From phenotype to diagnosis: Blueprint Genetics launches an open digital platform to connect clinicians based on matching rare variants

Published on April 12, 2018

The aim of the Nucleus Connecting Clinicians Open platform is to make rare genomic data accessible to health care professionals around the world. This platform provides them with the opportunity to share knowledge and phenotypes for rare disease patients with a Variant of Uncertain Significance (VUS) and Likely Pathogenic variants. Diagnosing…

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8th Annual Orphan Drug Congress USA

201 Waterfront St, Oxon Hill, MD 20745, USA

The World Orphan Drug Congress USA focuses on the major challenges and opportunities to bring rare disease therapies to patients faster. Stakeholders from all over the world are brought together to discuss new research and innovations.   Visit Blueprint Genetics at booth #503 to learn more about our options for…

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Blueprint Genetics is a College of American Pathologists (CAP) accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory. Our Sequence Analysis is ISO 15189  accredited in every step from sample arrival to clinical interpretation. The ISO 15189 standard accreditation is carried by FINAS and the information about the scope is available on the website www.finas.fi/Documents/T292_A01_2016.pdf.   Read more

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