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
Reportable variants include sequence variants and copy number variants (CNVs). Variants are filtered to the genes defined in the panel, and any pathogenic, likely pathogenic, risk, or variants of uncertain significance are reported. The test can include Exome-wide CNV analysis and has options for family trio or duo testing. STAT testing is available, which adds a 25% surcharge.
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