Genetic testing is complex. With so many different technologies and variant types, it can be difficult to know exactly what should be ordered. 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). The importance of providing detailed clinical information and test quality will also be discussed.
This webinar is intended for individuals with less experience ordering genetic testing or who would like to refresh their knowledge on genetic testing technologies.
- Describe different genetic testing technologies, and their capabilities and limitations
- Demonstrate the importance of good sequencing depth and coverage plus the inclusion of deep intronic variants in an NGS-based test
- Explain the significance of copy number variants (CNVs) and review the different detection methods used
- Explain how clinical information can make a difference in the interpretation of test results
Explore our webinars and other resources for more in-depth information on the topics discussed in the webinar:
Choosing a test
Webinar: Panels, Exomes, and Genomes: Determining an Appropriate Genetic Testing Strategy
What to order?
Guide: What to consider when choosing a testing platform for your patient
The diagnostic process
How we classify genetic variants when interpreting patients’ results
Webinar: Detecting Copy Number Variants – Why Is It Important?
Guide: Copy number variant (CNV) detection at Blueprint Genetics
Importance of clinical information
Insight: How clinical information impacts successful genetic diagnostics
Infographic: Clinical information can lead to finding a variant that might otherwise be missed
Jennifer Schleit, PhD, FACMG, received a PhD in pathology from the University of Washington in Seattle. She completed a clinical fellowship at the University of Washington and received her certification in clinical molecular genetics from the American Board of Medical Genetics and Genomics (ABMGG). Dr Schleit served as an Assistant Director at the Center for Precision Diagnostics at the University of Washington before accepting a position as senior geneticist at Blueprint Genetics in 2017. Her last position at Blueprint Genetics was as Laboratory Director of the Seattle facility until September 2022.
More details here