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Updated: Oct 1, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Detecting the "undetectable" alterations: Use of NGS to uncover high-risk alterations
Chelsea Halprin1, Sumire Kitahara1, Eric Vail1
1Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
Abstract:
Copy number variants are common in patients with myeloid malignancies and may confer diagnostic, prognostic or therapeutic relevance. However, detection of these variants may require multiple testing modalities, which may not be available or ordered on all cases. We present a case that highlights the efficacy of copy number analysis by next generation sequencing to identify clinically relevant variants that may otherwise be missed by conventional cytogenetics and typical florescent in situ hybridization panels.
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