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High-quality genetic diagnostics for all medical specialties.

We connect clinicians based on matching variants.

Connecting Clinicians


Gain and share knowledge to better serve your patients with rare inherited diseases.

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


Blueprint Genetics is maximising diagnostic yield by adding all clinically actionable non-coding variants into our Panels

Published on September 13, 2017

Gene Panels have revolutionised clinical diagnostic testing. However, for proportion of patients, sequence information restricted to exons and exon-intron boundaries fails to identify the genetic cause of the disease. Disease-causing non-coding variants may include for example deep intronic variants that create cryptic splice sites that result in aberrant mRNA transcripts.

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CAGC 30th Annual Education Conference

Canadian Association of Genetic Counsellors

100 Harbour Road, Victoria, BC, Canada

The CAGC Annual Education Conference will be held at the Delta Victoria Ocean Pointe Resort & Spa in Victoria BC.   Scientific Program: Short course devoted to the effective supervision of genetic counselling students Plenary sessions with updates on cancer screening in ovarian tumors, clinical implementation of genomic…

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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.


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