A Next-Generation Sequencing Test for Severe Congenital Neutropenia

Severe congenital neutropenia (SCN) is a collection of diverse disorders characterized by a chronically low absolute neutrophil count 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 group of diverse 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: Tags: Regular article Source Type: research