Webinars Next Steps with a VUS Mar 16, 2020 In this educational webinar, Blueprint Genetics’ Laboratory Director Jennifer Schleit (PhD, FACMG) introduces how variants are classified and the next steps to consider with a variant of uncertain significance (VUS). Read more
Webinars Increasing the Clinical Utility of Panel-Based Testing with mtDNA Analysis – a Quality Overview Feb 25, 2020 In this educational webinar led by Executive Director, Medical Tero-Pekka Alastalo (MD, PhD) and Bioinformatics Director Massimiliano Gentile (PhD), we will give a comprehensive overview of the importance of quality in mtDNA analysis and what to take into account when assessing its performance. Read more
Webinars Common Myths About Genetic Testing Dec 20, 2019 In this webinar, Laboratory Director and Senior Geneticist Jennifer Schleit (PhD, FACMG) will review and discuss common questions and misconceptions about genetic testing. Read more
Insights New and improved cardiology panels Nov 28, 2019 In October, a total of 86 new genes were added to 16 updated cardiology panels. The update takes into account the latest findings in the field and customer requests in order to meet the needs of providers, and increase the diagnostic potential of panels. Read more
Insights What to consider when choosing sponsored testing for your patient with an inherited retinal disease Dec 04, 2019 My Retina Tracker What to consider when choosing sponsored testing for your patient with an inherited retinal disease? This article aims to provide insights about why different quality aspects matter, including the importance of covering difficult-to-sequence regions, as well as having explicit information regarding patient data privacy. Read more
Webinars Inborn Errors of Immunity: The Growing Role of Genetics Nov 19, 2019 Recognizing the early symptoms of this patient population and identifying the underlying molecular cause can be challenging but can have a direct impact on long term outcomes. In this webinar, Géraldine Gosse from the Montreal Clinical Research Institute will review the vast spectrum of inborn errors of immunity and how a multidisciplinary team is advantageous to diagnosis and treatment. Read more
Webinars Keeping Pace: The Importance of a Shared Care Approach to Inherited Cardiovascular Disease Oct 01, 2019 In this webinar, Dr. Andrew Krahn, Heart Rhythm Specialist and current Canadian Cardiovascular Society President, will review the inherited cardiovascular patient’s journey from a first event to the dissemination of the diagnosis to family members, demonstrating the importance of an ongoing partnership with key members of a shared care team. Read more
Insights Copy number variant (CNV) detection at Blueprint Genetics Sep 16, 2019 CNVs are becoming increasingly recognized as an important cause of many genetic diseases. Read more
Insights The diagnostic odyssey of ultra-rare diseases: a patient’s perspective Juulia Simonen · Jan 29, 2019 Interview In 1998, Satu Salonen retired from her position as the head of an IT company and began her diagnostic odyssey. It took over five years to find a treatment that helps her cope with her own rare disease. She is now the president of the Finnish Association for Ultra Rare Diseases. Read more
