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ExomeReveal: Adding the Power of RNA Analysis to Exome Testing

Wednesday, December 11, 2024
2:00am PST
1 hour

Exome testing has proven to be a powerful tool in identifying a diagnosis in people with congenital anomalies, intellectual disability, developmental delay, epilepsy, autism, and other neurodevelopmental disorders. Laboratories continue to explore test enhancements that can improve exome testing. Recently, Ambry Genetics launched ExomeReveal, an exome test that adds the power of RNA analysis to exome testing, increasing the diagnostic yield and lowering the rate of variants of uncertain significance (VUS).

Learning Objectives

  1. Explain the key features, benefits, and underlying technology of ExomeReveal. 
  2. Define how the addition of RNA analysis to exome testing provides a deeper level of information when evaluating potential splice site variants.  
  3. Discuss future directions for RNA analysis and other supplemental technologies to enhance diagnostic yield.  

*CEU credit is not available for this webinar.*

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Melissa Holman
Sr. Genomic Science Liaison at Ambry Genetics
Melissa Holman is a certified genetic counselor and Cardiology & Rare Disease Genomic Science Liaison at Ambry Genetics. She completed her BS in Genetics with a minor in Psychology at Clemson University and received her Masters of Science in Genetic Counseling from Virginia Commonwealth University. After graduate school, Melissa worked for several years as a […]

Melissa Holman is a certified genetic counselor and Cardiology & Rare Disease Genomic Science Liaison at Ambry Genetics. She completed her BS in Genetics with a minor in Psychology at Clemson University and received her Masters of Science in Genetic Counseling from Virginia Commonwealth University. After graduate school, Melissa worked for several years as a genetic counselor in South Bend, Indiana. In 2019 she moved to Winston Salem, NC and transitioned to her current role at Ambry Genetics. As a Genomic Science Liaison, she serves as a clinical liaison for the field team to educate health care providers and other key opinion leaders on genetic testing and genomic medicine.