A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease

Severe congenital neutropenia (SCN) is a diverse collection of disorders characterized by chronically low absolute neutrophil counts in the peripheral blood, increased susceptibility to infection, and a significant predisposition to the development of myeloid malignancies. SCN can be acquired or inherited. Inherited forms have been linked to variants in a diverse group of genes involved in the neutrophil differentiation process. Variants that promote resistance to treatment have also been identified.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Source Type: research