Targeted RNA studies offer new opportunities to reduce uncertainty and increase diagnostic yield

Presenting Author: Carrie Horton, MS, CGC

Take home points: 

• This study looks at the outcomes of targeted RNA studies on VUS initially identified either through Ambry testing or at an outside lab.
• RNA analysis resulted in reclassification more than half the time (52%), increasing diagnostic yield and decreasing VUS rates.
• RNA studies were equally effective for internal and external cases, proving their broad utility and positioning this approach as a scalable solution for both in-house and to help clarify VUS reported from outside labs.