Webinars In Focus: Complex Genetic Regions in Clinical Diagnostics January 14, 2021 In this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions. Read more
Webinars From Data to Insights: How WES Variants are Interpreted and Classified December 21, 2020 During this educational webinar, Senior Geneticist Dr Kirsty Wells and Laboratory Director Dr Jennifer Schleit will provide an overview of the analysis and interpretation process with a focus on exome analysis. From data analysis to variant interpretation, we will describe how the patient’s genetic information is decoded to provide actionable insights to guide medical management. Read more
Videos Video: The Rapidly Evolving Field of Retinal Genetics January 13, 2021 We spoke with Dr Reddy about how she utilizes genetic testing when caring for patients with an ophthalmologic disorder and what she looks for in a test. She provides insight into the positive effects of ordering genetic testing for her patients and discusses the benefits of the My Retina Tracker Program, an open access genetic testing program for patients in the US with inherited retinal disease. Finally, she shares her thoughts on what the future of ophthalmology will look like and the role that genetic testing plays. Read more
Webinars Renal Genetics: What Genetics Professionals Need to Know About This Rapidly Evolving Subspecialty November 17, 2020 In this educational webinar, Dr Xiangling Wang, MD, PhD, will discuss the important role of genetics in the diagnosis of kidney disease. The webinar aims to improve clinicians’ and researchers’ understanding of genetic kidney disorders to help their daily practice. Read more
Webinars Understanding Skeletal Dysplasias—Recent Advances in Genetics November 24, 2020 In this educational webinar, Clinical Liaison Alicia Scocchia, MS, CGC, will review molecular causes of skeletal dysplasias and discuss genetic testing considerations. We will also share our experience at Blueprint Genetics with diagnostic panel testing for individuals with these conditions. Case examples will be explored highlighting complex clinical presentations and the involvement of copy number variants in diagnostic findings. Read more
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
