Skip to main content
Quest Diagnostics

Harnessing Advances for Improving Exome

Date: Wednesday, April 24, 2019

Description: Drs Karbassi and Mullen discuss the value of exome testing in clinical practice and the clinical value of a high-quality exome and expert variant interpretation. At the conclusion of this program, participants will be able to: • Illustrate the role of exome testing in clinical practice and the economic value to the patient and health system • Describe the clinical value of high-quality depth of coverage and the inclusion of mitochondrial and CNV analysis in exome testing • Discuss the importance of expert human variant interpretation with knowledge-based automation in defining the quality of exome test results ASCLS P.A.C.E.® credits are available to laboratory professionals through October 23, 2019.

Authors:
Karbassi, Izabela, PhD, FACMG
Director of Science Variant IQ
Quest Diagnostics
Marlborough, MA

Mullen, Thomas, PhD, FACMG
Senior Director of Science, R&D and Genomics
Quest Diagnostics
Marlborough, MA

Our company

Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA certified laboratories that provide HIPAA covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2024 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.