Severe Congenital Neutropenia Panel
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.
Special Instructions
Not provided.
Limitations
The analytical sensitivity of the Exome platform is over 99% for single nucleotide variants and over 95% for indels less than 49 base pairs. Genome platform sensitivity is over 99% for sequence variants and structural variants 1kb-10Mb in size. Sensitivity is reduced in regions with repetitive elements or paralogy. Genetic tests have inherent limitations, and not all variants may be identified, particularly in non-coding regions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided