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What is Next-Generation Sequencing (NGS) in Hematologic Diagnosis

Principles and Approaches to Diagnostic Bone Marrow Examination
The NGS techniques facilitate the identification of structural genetic variations, such as deletions/insertions, inversions, substitutions, and translocations, and potentially provide an accurate diagnostic tool overcoming the limitations of conventional DNA sequencing. They include whole-exome sequencing (WES), whole-genome sequencing (WGS), and targeted gene sequencing. The latter provides superior and in-depth sequencing than WES/WGS and simultaneously allows for mutation detection in over 100 genes.
Published in Chapter:
Ancillary Tests in Bone Marrow Diagnosis
Copyright: © 2024 |Pages: 19
DOI: 10.4018/978-1-6684-5818-1.ch003
Abstract
Selection of the appropriate ancillary tests, often based on careful morphologic examination of peripheral blood and bone marrow and adequate patient data, are critical for accurate diagnosis. Sometimes a characteristic clinical picture or pathognomonic morphologic feature directly reflects the need for a specific panel applied simultaneously with the initial examination. Routine ancillary tests range from cytochemical and histochemical staining to more complex immunophenotyping, genetic, and molecular techniques. Sample processing and laboratory conditions affect the accuracy and reliability of these tests. The technical test procedure, interpretation, quality control measure, and source of error are essential considerations discussed for each test category in this chapter.
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