Blueprint Genetics

Etusivu
Suomi
Espoo
Blueprint Genetics

Soita Reittiohjeet Verkkosivusto

We provide superior genetic diagnostics and clinical interpretation for hereditary diseases.

In 2012, Blueprint Genetics was founded in Stanford on a unique innovation, a sequencing technology published in Nature Biotechnology. Today, our mission is to provide comprehensive and cost effective genetic tests for clinicians worldwide with clinical grade sequencing quality. Blueprint Genetics is a genetics company based in Helsinki and Seattle. We are a team of cardiologists, geneticists, bioinformaticians and DNA biologists providing comprehensive and high quality genetic diagnostics in all 14 medical specialties.

12/11/2026

It’s Genetic Counsellor Awareness Day! At Blueprint Genetics, we want to celebrate the amazing work of the genetic counselling community. From the research to the way you support families through life-changing diagnoses, thank you for your dedication to your patients!

15/10/2026

Could mitochondrial diseases go undetected by standard genetic testing? Disorders caused by variants in the mitochondrial genome (mtDNA) are detected only if mtDNA is included in the test, and if it is analyzed with appropriate coverage by a skilled geneticist. We include sequence and copy number variant (CNV) analysis of the entire mitochondrial genome in whole-exome sequencing and in over 30 relevant gene panels.

🧬 Individual mtDNA genes, or the full mitochondrial genome, can be added to a panel of your choice.
🧬 Including mtDNA in first-line genetic testing can help avoid diagnostic delays, clarify inheritance patterns, and provide appropriate medical management.

Learn more: https://www.blueprintgenetics.com/tests/panels/mitochondrial-disorders/

13/10/2026

Genetic testing can help identify causes of inherited vision disorders, supporting a more accurate diagnosis and providing valuable information for patients and their families.

At Blueprint Genetics, we support clinicians in identifying genetic causes of inherited eye disorders through comprehensive genetic testing and expert clinical interpretation.

Learn more: https://www.blueprintgenetics.com/tests/panels/ophthalmology/

07/10/2026

See You in Halifax from October 14-16! We are excited to announce that Blueprint Genetics will be present at the Canadian Association of Genetic Counsellors (CAGC) 2026 Annual Education Conference!

If you’re attending, stop by to say hi at our booth and learn all about the latest updates from Blueprint Genetics!

📍 Where: Halifax, NS, Booth Number #14

🗓️ When: Oct 14 – Oct 16, 2026

06/10/2026

Join us at the XXIX SIGU National Congress!

We are thrilled to announce that we will be attending the upcoming XXIX SIGU National Congress in Italy! From October 7th to October 9th, we'll be there to connect with industry leaders, share groundbreaking insights, and discuss what's shaping the future of genetic testing.

Whether you're a lab professional, a researcher, or simply passionate about genomics, come chat with our team about the latest updates and innovations from Blueprint Genetics.

📅 When: Oct 7 – Oct 9
📍 Where: Rimini, Italy, Booth #5

We can't wait to meet you there!

Learn more: https://www.blueprintgenetics.com/events/the-xxix-sigu-national-congress/

30/09/2026

Don’t forget to sign up for our upcoming !

Join us on Oct 1 at 17:00 CEST for an in-depth discussion on the core components of high-quality WES interpretation: intelligent variant prioritization using a genotype-first approach, continuously updated annotation of gene–disease associations, and the application of deep specialist expertise in variant interpretation.

Sign up ⬇️

In this webinar, Dr Kirsty Wells examines the core components of high-quality WES interpretation: intelligent variant prioritization using a genotype-first approach, continuously updated annotation of gene–disease associations, and the application of deep specialist expertise in variant interpreta...

29/09/2026

Today, we bring awareness to cardiovascular diseases and the importance of heart health. Every step toward better understanding, prevention, and early detection can make a difference.

28/09/2026

We're thrilled to announce that Blueprint Genetics will be heading to the 64th Annual Meeting of the Austrian Society for Pediatric and Adolescent Health!

Join us from Sep 30 – Oct 2 to network and discuss what’s shaping the future of genetic testing for pediatrics. Get ready for exciting insights and learn all about the latest updates from Blueprint Genetics.

📍 Where to find us: Booth #103
🗓 Dates: Sep 30 – Oct 2

See you in Austria!

Learn more: https://www.blueprintgenetics.com/events/the-64th-annual-meeting-of-the-austrian-society-for-pediatric-and-adolescent-health/

17/09/2026

Join our upcoming on October 1 at 17:00 CEST titled, ‘Unlocking the diagnostic potential of whole-exome sequencing: The role of high-quality interpretation.’

In this webinar, Dr. Kirsty Wells will examine the core components of high-quality WES interpretation: intelligent variant prioritization using a genotype-first approach, continuously updated annotation of gene–disease associations, and the application of deep specialist expertise in variant interpretation.

Webinar Objectives:
🧬 Understand the key components of high-quality WES interpretation, including variant prioritization strategies and gene-disease association annotation
🧬 Evaluate the role of specialist expertise in accurate variant interpretation
🧬 Recognize how rigorous interpretation translates into real-world diagnostic outcomes, as illustrated through case examples

Unable to attend live? By registering, you will receive a link to a recording of the webinar for you to watch at your convenience

Sign up ⬇️
https://www.blueprintgenetics.com/resources/unlocking-the-diagnostic-potential-of-whole-exome-sequencing-the-role-of-high-quality-interpretation/

07/09/2026

Clinicians rely on Blueprint Genetics for personalized genetic support. Whether you have clinical inquiries or need assistance with practical matters like billing or sample collection kits, our Clinical Genetics Support team is here to help.

Learn more: blueprintgenetics.com

Osoite

Keilaranta 16 A-B
Espoo

Puhelin

+358402511372

Verkkosivusto

https://blueprintgenetics.com/

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