Blueprint Genetics

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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.

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/

26/06/2025

Join our educational on July 2 at 7:00 PM CEST titled ‘Ehlers-Danlos syndrome: Reviewing the diagnostic utility of genetic testing for EDS.'

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting connective tissue, primarily skin, joints, and blood vessel walls. These syndromes are caused by genetic mutations in genes involved in collagen production or function, leading to weaker and more stretchy connective tissues. The inheritance patterns can vary, with some types being autosomal dominant and others autosomal recessive. In this webinar, Professor Clair A. Francomano will discuss the various forms and inheritance patterns of EDS, and review the diagnostic utility of genetic testing for EDS.

Webinar Objectives:
🧬 Discuss the various forms and the inheritance patterns of Ehlers-Danlos syndrome
🧬 Review the diagnostic utility of genetic testing for Ehlers-Danlos syndrome

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 today: https://blueprintgenetics.com/resources/ehlers-danlos-syndrome-reviewing-the-diagnostic-utility-of-genetic-testing-for-eds/

05/06/2025

A family history of cancer can indicate a genetic predisposition. The Blueprint Genetics Comprehensive Hereditary Cancer Panel offers broad coverage of genes associated with inherited cancer syndromes, including breast, ovarian, colorectal, prostate, and more.

This panel includes:

✔ Both sequence and copy number variant (CNV) detection
✔ Disease-associated noncoding variants
✔ Break-point analysis to detect structural variants, like coding region Alu-insertions, often missed by target capture methods
✔ Results in 4 weeks

Learn more: https://blueprintgenetics.com/tests/panels/hereditary-cancer/comprehensive-hereditary-cancer-panel/

02/06/2025

We’re excited to share with you our Sequencing Services, designed specifically to support your research needs! With over 13 years of experience in the field of genetic testing, our service combines sequencing quality with the support and guidance from our experts to help propel your study further.

Our certified laboratory delivers:

✔ Comprehensive WGS and WES Sequencing Services
✔ Flexible and dynamic service solutions
✔ Dedicated support and expertise that you can rely on

Learn more:
https://blueprintgenetics.com/sequencing-services/

08/05/2025

At Blueprint Genetics, we believe that whole exome sequencing can help guide important health decisions for your patients and their families.

Our Whole Exome Family test includes a high-quality exome sequence analysis of an index patient and their parents (trio) or other family members. In addition, this test is coupled with a whole exome deletion/duplication analysis and mitochondrial genome (mtDNA) sequence analysis to identify potential genetic causes of disease.

Discover the benefits of Whole Exome Family.

✔️ Higher positive rate
Patients tested with WES Family had a higher positive rate (32.1%) when compared with those tested individually (27.3%)*

✔️ Enhanced report accuracy
Helps to exclude variants from reporting when inherited from healthy members

✔️ Reduces the need for additional testing
Utilizes the most comprehensive variant classification to avoid delays in diagnosis and additional costs

Learn more: https://blueprintgenetics.com/tests/whole-exome-sequencing/whole-exome-family-we0601/

24/04/2025

Sign up for our educational on May 7 at 5:00 PM CEST titled ‘Solving diagnostic challenges in inborn errors of immunity.'

In this webinar, geneticist Anni Niskakoski, PhD, and genomic science specialist Torry Howell, MS, CGC, will review the use of genetic testing in IEIs and the importance of a robust variant curation process to maximize genetic testing results quality and subsequent patient management.

Webinar Objectives:

🧬 Review the diagnostic utility of genetic testing for inborn errors of immunity
🧬 Discuss the various lines of evidence used to inform variant classification and disease association
🧬 Demonstrate how a genetic diagnosis can direct patient management

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 today: https://blueprintgenetics.com/resources/solving-diagnostic-challenges-in-inborn-errors-of-immunity/

22/04/2025

We would like to take a moment to thank our wonderful lab team and all the incredible people working with us to improve the field of genetic testing and patient care. Thank you for all that you do!

11/04/2025

Pursue the full potential of genetic testing with Blueprint Genetics, where expertise meets innovation. We strive to provide cutting-edge technology, accessible experts, and support that you and your patients can have confidence in.

Trust us to deliver the insights you need at: blueprintgenetics.com

08/04/2025

Will you be at the ESHG Precision Genomic Medicine Workshop in Dublin from April 9-11? If you are, we would love to meet you there and discuss the exciting advancements in the field of human genetics, and share the latest updates from Blueprint Genetics.

Learn more: https://blueprintgenetics.com/events/eshg-precision-genomic-medicine-workshop-a-focus-on-clinical-utility

02/04/2025

Blueprint Genetics is attending the Annual Conference of the Israel Society of Medical Genetics from April 2-3. If you are attending, our Sales Representative, Evgeni Rysin, will be available to discuss with you all about the latest updates from Blueprint Genetics.

Learn more: https://blueprintgenetics.com/events/the-israel-society-of-medical-geneticists/

01/04/2025

We are excited to be attending the Annual Meeting of the German Society of Human Genetics in Innsbruck, Austria from April 2-4! Come stop by to say hi, meet our Senior Account Manager, Kaarin Ahomaa, and hear all about the latest updates from Blueprint Genetics.

Learn more: https://blueprintgenetics.com/events/the-annual-meeting-of-the-german-society-of-human-genetics/

21/03/2025

Carrier screening to assess reproductive risk is becoming increasingly common in medical practice and enables patients to make informed decisions about their reproductive options. Check out our webinar below, where we explore the rationale for offering carrier screening and things to consider when selecting a test.

Watch webinar: https://blueprintgenetics.com/resources/carrier-screening-for-reproductive-risk-things-to-consider/

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https://blueprintgenetics.com/

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