An Introduction to Genetic Testing: What You Need to Know When Ordering a Test
Webinar information
Date: October 15, 2020
Time: 16:00 CEST
Duration: 1 hour
Speaker: Jennifer Schleit

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.

Webinar objectives:

  • 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
Diagnostic process
How we classify genetic variants when interpreting patients’ results

CNV detection
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

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

Last modified: August 18, 2022
Webinar information
Date: October 15, 2020
Time: 16:00 CEST
Duration: 1 hour
Speaker: Jennifer Schleit