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  • While this report demonstrates that CMA with SNP

    2019-04-28

    While this report demonstrates that CMA with SNP arrays is useful for the analysis of genomic imbalances in the peripheral blood of patients with suspected MDS, this technique is not readily available at many medical centers and many institutions perform fluorescence in situ hybridization to detect cytogenetic abnormalities. Hence, it is important to consider/discuss other diagnostic methods which can utilize peripheral blood (such as high-throughput sequencing technologies) in this context [17]. CA-074 Me analysis based on Sanger sequencing, PCR, and next-generation sequencing (NGS) technologies has been introduced in many centers and is able to detect MDS-related mutations in bone marrow and may be used to advance classification and prognostication of MDS. In recent years, the field of molecular diagnostics has been significantly advanced with the introduction of NGS. There are now multiple commercially available NGS assays, each with a unique method of template preparation, sequencing and imaging and different approaches for the analysis of data [18–20].
    Author contributions
    Conflict of interest
    Acknowledgments This study was supported in part by National Cancer Institute Grant CA-06927 and an appropriation from the Commonwealth of Pennsylvania. The Fox Chase Cancer Center Genomics Facility was used in the course of pancreatic islets work. The study sponsors had no involvement in the study design, collection, analysis and interpretation of data.