Abstract: Sanger sequencing and karyotyping are traditionally used to detect molecular alterations in myeloid cancer that inform diagnosis and treatment. Recently, new myeloid biomarkers have expanded the scope of molecular testing. To address the need for broader profiling, we developed a next-generation sequencing (NGS) assay on Ion AmpliSeq targeted sequencing technology to research alterations in 58 myeloid cancer genes and a cytogenetics assay on an Applied Biosystems (Affymetrix) platform to detect chromosomal alterations. Furthermore, we developed a reporting solution that integrates results from both platforms into a single report with curated evidence from drug labels (EMA, FDA), clinical guidelines (ESMO, NCCN), and global clinical trials.
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