The presence and pattern of gene mutations can provide critical diagnostic, prognostic, germline, and sometimes therapeutic information for physicians. While many hematologic neoplasms are characterized by morphologic or phenotypic similarities, a growing number of patients also have somatic gene mutations. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed and classified according to gene mutation profile.
David Viswanatha, M.D., gives an overview of the next-generation sequencing (NGS) testing for myeloid malignancies available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing improves upon previous testing approaches, and what clinical action can be taken due to the results of this testing.