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
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
Webinars Genetic Testing for Individuals with Kidney Disease: Updates and Clinical Utility Aug 28, 2019 Identifying, or confirming, a genetic diagnosis can help guide medical management, improve patient outcomes and enable the identification of at-risk family members who may benefit from surveillance. During this webinar, Dr. Friedhelm Hildebrandt will review the most recent advances in genetic testing and diagnosing inherited kidney disease. Read more
Insights 6 things you might not know about Whole Exome Sequencing Mar 05, 2019 Interview Selecting the appropriate panel for a patient can be difficult. “Not every patient fits into a neat phenotypic box or meets diagnostic criteria. WES removes the difficulty of trying to find the right panel for your patient as all protein-coding genes are covered in one single test", says senior geneticist Jennifer Schleit. There are many important factors to consider when choosing a whole exome test for your patient. Read more
Insights Finding your role and purpose within clinical genetics Jussi Paananen · Feb 21, 2019 Blog Developers, software architects, data scientists – the rarest of commodities in the current hot employment market. As an employer, how do you differentiate yourself from all the other interesting opportunities out there? To me, the answer is quite simple, writes Chief Technology Officer Jussi Paananen in his blog. Read more
Posters Improved Mapping Quality and Coverage in Highly Homologous PKD1 Gene Enable High Diagnostic Yield in ADPKD Apr 04, 2019 Research We evaluated the diagnostic yield and performance of our in-house tailored Polycystic Kidney Disease and Cystic Kidney Disease Panels. Read more
Insights Case Report: The Power of NGS-based CNV Analysis within an Exome Apr 04, 2019 Case report This case report describes a young adult who presented as an infant with feeding difficulties, growth retardation, recurrent infections, dysmorphic features and multiple congenital anomalies including bilateral coloboma and bilateral choanal atresia. 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
