Do you routinely send NGS testing from bone marrow samples in patients with unexplained cytopenia or cytoses?

For patients with unexplained cytopenias in whom I suspect MDS or MDS/MPN, I will often obtain a broad NGS panel for myeloid malignancy gene mutations. The goal is to aid in diagnosis (and prognosis once the diagnosis is made), but I do not rely on the NGS panel alone to make the diagnosis. A bone marrow examination is still required for an accurate diagnosis and classification. Having the NGS result available with a bone marrow examination can aid in making the diagnosis.

In rare circumstances, I have used the NGS panel to help triage whether to proceed with a bone marrow biopsy. For example, in an elderly patient with mild cytopenias who is reluctant to have a biopsy, an NGS test result showing no evidence of somatic mutations would be rea...