Analytical Validation of a 37-Gene Next-Generation Sequencing Panel for Myeloid Malignancies and Review of Initial Findings, including Reclassification of Acute Myeloid Leukemias and Myelodysplastic Syndromes Using the 2022 World Health Organization/International Consensus Classification/European LeukemiaNet Guidelines

Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation. Mutational profiling is vital as it has implications for diagnosis, prognosis, and therapeutic decision-making. Next-generation sequencing (NGS) has become a mainstay in the evaluation of myeloid malignancies, as it enables efficient characterization of multiple genetic changes. Herein, the analytical validation of the 37-gene Archer VariantPlex Core Myeloid panel is reported, using 58 DNA specimens with 87 single-nucleotide variants and 23 insertions/deletions.

Source: Journal of Molecular Diagnostics - February 14, 2024 Category: Pathology Authors: Becky Leung, Hnin Aung, Adayapalam Nandini, Ghusoon Abdulrasool, Chiyan Lau, Louise Seymour Tags: Regular article Source Type: research