The diagnostic landscape for rare disease is being reshaped by whole exome sequencing, which is increasingly used as a first-line test for cases involving unexplained developmental delay, epilepsy, or multisystem disease. In this episode, Rebecca Johnson Wheeler, MS, CGC, explores how whole exome sequencing and Quest Diagnostics genetic experts are transforming rare disease diagnosis by enabling earlier answers, reducing unnecessary testing, and improving care for patients and families.
Describe whole exome sequencing in rare disease (1:40)Review clinical indications and guidelines for whole exome sequencing, including the available test options (3:25)Explain the role of genetic counselors in supporting rare disease and whole exome sequencing (5:50)Speaker(s): Rebecca Johnson Wheeler, MS, CGC
Contributor(s): Rebecca Johnson Wheeler, MS, CGC; Maeson Latsko, PhD; Meenakshi Mahey Kumar, MS, CGC; Natalie Cuttic; Whitney Dodge, MS, CGC; Khalida Liaquat, MS, CGC
Quest Diagnostics Clinical Education Center [Link]
Test information: https://www.questdiagnostics.com/healthcare-professionals/about-our-tests/genetics/exome
Blog: https://www.questdiagnostics.com/our-company/actions-insights/2026-blogs/considering-mitochondrial-genomes-in-whole-exome-testing
Whole Exome | Test Detail | Quest Diagnostics
Whole Exome Family Trio | Test Detail | Quest Diagnostics
Whole Exome Family Duo | Test Detail | Quest Diagnostics
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