Education & Resources

Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations

[PUBLICATION] J Cardiovasc Magn Reson. 2015 Oct 24;17:89. doi: 10.1186/s12968-015-0192-3. BACKGROUND: Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cardiac cell metabolism and has a distinctive histopathology with excess intracellular glycogen, and prognosis different from sarcomeric hypertrophic cardiomyopathy. We aimed to define the distinct …

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The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

[PUBLICATION] Am J Med Genet A. 2016 Jun;170(6):1433-8. doi: 10.1002/ajmg.a.37596. Epub 2016 Feb 17. We report a 10-year-old girl presenting with severe neonatal hypertrophic cardiomyopathy (HCM), feeding difficulties, mildly abnormal facial features, and progressive skeletal muscle symptoms but with normal cognitive development. Targeted oligonucleotide-selective sequencing of 101 cardiomyopathy genes revealed …

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Genetic testing and blood biomarkers in paediatric pulmonary hypertension

[PUBLICATION] Heart. 2016 May;102 Suppl 2:ii36-41. doi: 10.1136/heartjnl-2014-307238. Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK. Childhood-onset pulmonary arterial hypertension (PAH) is considered complex and …

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Whole Exome Sequencing

[WHITE PAPER] Whole Exome Sequencing – Maximizing the diagnostic yield in various clinical indications. Reaching a correct genetic diagnosis in a timely manner allows for appropriate disease management and can significantly improve a patient’s quality of life. Whole-exome sequencing (WES) is a robust and one of the most comprehensive genetic tests to …


Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy

[PUBLICATION] Clin Genet. 2016 Jan 18. doi: 10.1111/cge.12741. As a continuation to Blueprint Genetics recent collaborative studies on genetics of dilated cardiomyopathy (DCM) (Eur Heart J 2015 and PlosOne 2015), we performed meta-analysis of truncating titin variants in DCM. Others and we have previously estimated TTN truncating variants (TTNtv) – nonsense, frameshift and …

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Prevalence of Titin Truncating Variants in General Population

[PUBLICATION] PLoS ONE 10(12): e0145284. doi:10.1371/journal.pone.0145284. 2015 Dec 23. Truncating titin (TTN) mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM). Clinical interpretation of these variants can be challenging, as these variants are also present in reference populations. We carried out sys- tematic analyses of TTN …

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Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development

[PUBLICATION] Am J Med Genet A. 2015 Mar;167A(3):629-34. doi: 10.1002/ajmg.a.36924. Sequencing of channelopathy genes with the BpG Arrhythmia Panel revealed a de novo mutation in the CACNA1C gene in an adolescent with ventricular fibrillation but normal development, consequently not only expanding the phenotype of Timothy Syndrome Type 2 but also demonstrating the power of large gene panels. The standard has …

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What we do

[GUIDE] Read more how we combine advanced genetic testing with clinical expertise to provide the most comprehensive high-quality diagnostics for all medical specialties.


How we classify genetic variants when interpreting patients results

[WHITE PAPER] In genetic diagnostics, variant classification forms the basis for clinical judgment. Despite the international guidelines and principles, there is still significant inter-laboratory variation in classification of genetic variants. Read our white paper to find out how we classify genetic variants when interpreting patients results.


How to order a genetic test

[GUIDE] Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.

Coming soon...

Transparency and quality in genetic diagnostics

On the coming episode we will talk about the quality and transparency when evaluating the best tests for patients. We will also discuss how transparency in genetic testing translates to clinics and patient care.

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Artificial intelligence in Genetic Testing of Inherited Disorders

Published on March 23, 2017

Blueprint Genetics is applying Artificial Intelligence (AI) in clinical interpretation to automate manually laborious interpretation processes and empower geneticists and clinicians to interpret patients’ test data accurately and consistently. In this podcast, Massimiliano Gentile, Informatics Director, and Samuel Myllykangas, CTO, are discussing why AI is instrumental in advancing the interpretation of genetic testing data, how AI is applied for genetic testing of inherited disorders and what AI solutions Blueprint Genetics is offering for patients.

An introduction to Blueprint Genetics

Published on March 22, 2017

Blueprint Genetics was founded five years ago as a Stanford University spin-off company. The aim from the beginning has been to bring genetic diagnostics into the daily routines of healthcare organizations. In this podcast Blueprint Genetics' co-founder Tero-Pekka Alastalo, MD, Ph.D together with Lauren Moissiy, MS, LGC, will discuss the origin of the company and what makes Blueprint Genetic a successful genetic testing provider.

Whole Exome Sequencing is a Powerful Tool to Diagnose Inherited Disorders with Complex Phenotypes

Published on March 22, 2017

In this podcast, Mikko Muona, Genetic Informatics Scientist, and Samuel Myllykangas, CTO, are discussing why WES is instrumental tool for determining genetic underpinnings of inherited disorders, how WES can be applied to solve clinical cases with complex genetic backgrounds and what WES solutions Blueprint Genetics is offering for diagnostics of patients with inherited disorders.