Webinars Introducing our Clinical Report—A Step by Step Guide for Understanding Your Patient’s Test Results October 23, 2020 A high-quality clinical report is an important tool that allows physicians to make clinical decisions based on expert input. In this educational webinar, Laboratory Director Dr Jennifer Schleit will review the information provided throughout a Blueprint Genetics report. We will conclude with a 15-minute participant Q&A session. Read more
Webinars Genetic Testing for Inborn Errors of Immunity: What’s Included In Your Test? September 21, 2020 In this educational webinar, North American Marketing Manager Joe Jacher, MS, CGC and Executive Medical Director Dr Tero-Pekka Alastalo, MD, PhD will provide an introduction to genetic testing for inborn errors of immunity and examine Blueprint Genetics’ experience sequencing thousands of individuals suspected of having an inborn error of immunity. Read more
Webinars An Introduction to Genetic Testing: What You Need to Know When Ordering a Test September 23, 2020 In this webinar, Laboratory Director Dr Jennifer Schleit will provide an overview of multiple genetic testing technologies and their applications, with a focus on next-generation sequencing (NGS). This webinar is intended for individuals with less experience ordering genetic testing or who would like to refresh their knowledge on genetic testing technologies. Read more
Webinars The Importance of Family: When to Consider Genetic Testing for Family Members September 03, 2020 Genetic testing is often a question for the whole family. In this educational webinar, Senior Geneticist Dr Kirsty Wells will talk through the different scenarios of when genetic testing for family members is potentially valuable. Case examples will be presented to illustrate how familial testing can make a crucial difference to the genetic testing outcome. Read more
Webinars Detecting Copy Number Variants – Why Is It Important? August 07, 2020 In this webinar Laboratory Director Dr Jennifer Schleit reviews the capabilities and limitations of different CNV detection technologies, with an emphasis on more recently developed NGS-based CNV detection methods. We will use case examples to highlight the diagnostic power of combining both CNV detection and sequence analysis in a single testing method. Read more
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 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. Read more
Webinars Panels, Exomes, and Genomes: Determining an Appropriate Genetic Testing Strategy June 05, 2020 Advancements in sequencing technology have led to molecular diagnostics becoming an increasingly powerful and accessible tool for patients with inherited disorders across various medical specialties. During this webinar, Laboratory Director Dr Jennifer Schleit will explain how sequencing quality and data interpretation impact the identification of diagnostic variants in molecular genetic testing. Additional capabilities in NGS, including copy number variant (CNV) detection and mitochondrial DNA analysis, will also be addressed. Read more
