Abstract

The evaluation of copy number variants (CNVs), loss of heterozygosity (LOH), and sequence variants provides valuable clinical information for the diagnosis and prognosis of both hematologic malignancies and solid tumors. In our laboratories, genomic profiling is typically performed using chromosomal microarray analysis (CMA), Sanger sequencing and next generation sequencing (NGS) assays. The data are analyzed individually with different software tools and then combined in an integrated report.

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