Use

The Severe Congenital Neutropenia (SCN) Panel is intended for individuals with a clinical or suspected diagnosis of SCN or a family history of the condition. SCN is characterized by an absolute neutrophil count consistently below 500/µL and severe bacterial infections starting in early infancy. It can result from autosomal dominant, autosomal recessive, or X-linked inheritance patterns and may occur as isolated neutropenia or part of syndromes affecting multiple organs. The panel's diagnostic yield varies with clinical phenotype and is approximately 60%. It helps identify known pathogenic variants contributing to SCN, which include a range of genetic alterations like missense, nonsense, and splicing variants.