Webinars The Importance of Family: When to Consider Genetic Testing for Family Members Sep 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? Aug 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 · Jun 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 Jun 22, 2020 Interview Has the incredible growth in genetics left us with some misconceptions about testing? Laboratory Director Jennifer Schleit lists some of the common myths in genetic testing. Read more
Webinars Panels, Exomes, and Genomes: Determining an Appropriate Genetic Testing Strategy Jun 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
Webinars How to Solve Challenging Pediatric Cases, Part III May 15, 2020 The Blueprint Genetics team is no stranger to challenging cases. In this webinar, Senior Geneticist, Dr Kirsty Wells and Clinical Liaison Julie Hathaway, will describe, through pediatric case examples, some of the team’s most recent efforts at arriving at a molecular diagnosis. They demonstrate how teamwork, combined with innovative technology, bioinformatics and skilled interpretation, can solve even the most difficult of cases. 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
