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The Choice is Yours

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Over 220 panels to choose from, 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

News

Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP

Published on April 30, 2018

Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased…

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Events

CPS 95th Annual Conference

Canadian Paediatric Society

1000 Boulevard René-Lévesque E, Ville de Québec, QC G1A 1B4, Canada

The CPS 95th Annual Conference from May 30-June 2, 2018 in Quebec City, Quebec is Canada’s largest gathering of Canadian child and youth health care professionals.  The conference will feature talks about the latest advanced in the field of pediatrics.   Read more here.   Don’t miss Dr.

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CAP  CLIA  ISO15189

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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