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Articles Tagged: Whole Exome Sequencing
February 19, 2025
Three Benefits of Ordering Exome Testing as Trios
Several studies have shown that running an exome “trio” with both biological parents increases the diagnostic yield and decreases the rates of variants of uncertain…
Family History
Genetic Testing
Genetic Testing Accuracy
Whole Exome Sequencing
February 4, 2025
Why Consider an Exome-First Testing Workflow?
Evaluating rare disease and neurodevelopmental disorders focuses on chromosomal microarray (CMA) or exome sequencing. We explore the benefits of these testing methods and why exome-first…
Whole Exome Sequencing
November 15, 2024
How the Ambry Patient for Life™ Program Minimizes the Need for Provider-Initiated Exome Reanalysis Requests
One of the unique benefits of exome testing is the ability to return to the data from the initial analysis and reevaluate it for new,…
Genetic Testing
Genetic Testing Accuracy
Multigene Panel Testing
Tag
VUS
Whole Exome Sequencing
June 11, 2024
A Journey through the Undiagnosed Disease Program: An Interview with Ellen Macnamara, MS, CGC
Patients with a rare disease and going through a diagnostic odyssey wait for years without answers. Ellen Macnamara, ScM, CGC, explains how these cases journey…
Genetic Testing
TRUE
Whole Exome Sequencing
May 2, 2024
Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory Setting
The Patient for Life Program helps provide accurate, up-to-date and accessible genetic testing options.
Genetic Testing Accuracy
Tag
VUS
Whole Exome Sequencing
April 2, 2024
Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing
The ability of exome sequencing (ES) to detect variants across the genetic code makes it a powerful diagnostic tool, reducing the number of tests and…
Genetic Testing
Genetic Testing Accuracy
Tag
VUS
Whole Exome Sequencing
