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
Webinars Diagnostic Challenges of ABCA4-Related Retinal Disease Apr 28, 2020 In this webinar, Clinical Genetic Counselor Kelsey Zegar, MS, CGC, from InformedDNA and Blueprint Genetics Clinical Liaison Kim Gall, MSc, CGC, will review the genetic diagnostic and counseling implications of ABCA4-related disease with a focus on the ABCA4 c.5603C>T, p.(Asn1868Ile) hypomorphic allele. Read more
Webinars Understanding Dementia: The Common Causes and Heritability Apr 28, 2020 In this educational webinar, Kaylee Faulkner, MS, CGC, will review common causes of dementia and discuss the heritability of these conditions as well as the testing considerations clinicians may have when ordering genetic testing. Read more
Webinars Next Steps with a VUS Mar 16, 2020 In this educational webinar, Blueprint Genetics’ Laboratory Director Jennifer Schleit, PhD, FACMG, introduces how variants are classified and the next steps to consider with a variant of uncertain significance (VUS). Read more
