Blueprint Genetics

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Suomi
Espoo
Blueprint Genetics

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.

20/11/2025

Join our educational on Nov 27 at 5:00 PM CET titled ‘Genes, Panels, and Patients: A Practical Approach to Genetic Testing in Cystic Kidney Disease.’

In this webinar, Alicia Scocchia, MS, CGC, will review the use of genetic testing in individuals with cystic kidney disease and pose considerations for genetic test selection, based on published literature and the experience of Blueprint Genetics.

Webinar Objectives:
🧬 Define the monogenic contribution to cystic kidney disease and review the value of genetic testing for this clinical indication
🧬 Summarize key findings from a retrospective study of patients receiving panel testing at Blueprint Genetics and compare them to recent literature
🧬 Discuss features to consider when assessing panel test options for cystic kidney disease

Unable to attend live, you will receive a link to a recording of the webinar to watch at your convenience.

Sign up today: https://www.blueprintgenetics.com/resources/genes-panels-and-patients-a-practical-approach-to-genetic-testing-in-cystic-kidney-disease/

16/10/2025

Will you be attending the European Society for Medical Oncology from October 17-21, 2025, in Berlin, Germany? If so, stop by booth #2002 (Level 2, Hall 2.2) and meet our Executive Account Director, Daniela Albero, and Senior Account Manager, Kaarin Ahomaa, to learn about the latest developments at Blueprint Genetics!

Learn more: https://blueprintgenetics.com/events/european-society-for-medical-oncology/

13/10/2025

Join our educational on Oct 23 at 5:00 PM CEST titled ‘Empowering Precision Medicine: The power of WES and mitochondrial DNA analysis.’

In this webinar, Dr Kirsty Wells, Senior Geneticist, and Dr Raquel Pérez, Geneticist, from Blueprint Genetics will explore the power of high-quality whole-exome sequencing and mitochondrial genome testing for challenging cases.

Webinar Objectives:

🧬 Share experience of utilizing an optimized WES assay, which includes almost 2000 clinically relevant noncoding variants, small CNV detection, and enhanced coverage of challenging regions, and discuss the power of a genotype-first approach and the importance of skilled interpretation

🧬 Demonstrate the advantages of integrating mtDNA analysis into WES.

Unable to attend live, you will receive a link to a recording of the webinar to watch at your convenience.

Sign up today: https://blueprintgenetics.com/resources/empowering-precision-medicine-the-power-of-wes-and-mitochondrial-analysis/

23/09/2025

Join our educational on Oct 1 at 5:00 PM CEST titled ‘Optimizing research outcomes: WGS and WES with Blueprint Genetics.’

In this webinar Ville Kytölä, Director of Bioinformatics Engineering, and Mikko Muona, PhD, Senior Bioinformatics Manager from Blueprint Genetics will discuss how to evaluate WGS and WES services, understand key technical and operational criteria to ensure that sequencing projects achieve high-quality and reproducible results.

Webinar Objectives:

🧬 Understand the key pillars of a high-quality sequencing service, including process reliability, partnership support, and technical excellence
🧬 Learn how to evaluate whole genome sequencing (WGS) and whole exome sequencing (WES) services to ensure high-quality and reproducible results for research projects

Unable to attend live, you will receive a link to a recording of the webinar to watch at your convenience.

Sign up today: https://blueprintgenetics.com/resources/optimizing-research-outcomes-wgs-and-wes-with-blueprint-genetics/

22/07/2025

One key component of our commitment to providing quality genetic testing is to look deeper into technically challenging but clinically important genes and regions not covered by many standard NGS workflows. These technically challenging genes can be responsible for a significant proportion of genetic diseases.

One such gene is RPGR, which accounts for 10–20% of all retinitis pigmentosa diagnoses. The ORF15 exon is a known hotspot for disease-causing variants but is challenging to sequence. Despite its relevance, ORF15 is often excluded because of these challenging regions. At Blueprint Genetics, our aim is to include these challenging regions, increasing the likelihood of detecting pathogenic variants in genes such as RPGR.

Learn more: https://blueprintgenetics.com/news/difficult-sequence-genes-ophthalmology-improved-sequencing-coverage-mapping-quality-orf15-enable-unmatched-diagnostic-yield-xlrp/

Osoite

Keilaranta 16 A-B
Espoo

Puhelin

+358402511372

Nettisivu

https://blueprintgenetics.com/

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