Insights 4 common myths in genetic testing June 22, 2020 Interview Has the incredible growth in genetics left us with some misconceptions about testing? Laboratory Director Jennifer Schleit listed some of the common myths in genetic testing.
Insights VUS, the unwanted result? Collaboration between clinicians and laboratories helps lay the foundation for future reclassification Eija Seppälä · June 26, 2020 Blog What can you do to help advance reclassification? In her blog, Senior Geneticist Eija Seppälä lists what to consider when determining how likely it is that a VUS will be reclassified. Read more
Insights Understanding a variant of uncertain significance – take a close look at the interpretation Eija Seppälä · May 29, 2020 Blog As a molecular geneticist, my goal is to minimize the number of VUSs reported as primary findings and ensure that we clearly define those in the report that are the most suspicious and have the greatest potential to be clinically relevant, writes Senior Geneticist Eija Seppälä in her blog. Read more
Insights What to consider when choosing sponsored testing for your patient with an inherited retinal disease December 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
Insights Improved cardiology panels November 28, 2019 In October 2019, 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 Copy number variant (CNV) detection at Blueprint Genetics September 16, 2019 CNVs are becoming increasingly recognized as an important cause of many genetic diseases. Read more
Insights Case report: The power of NGS-based CNV analysis within an exome April 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
