Congenital Defects of Phagocytes Panel
Use
This test is designed for individuals with relevant clinical features who have a confirmed or suspected diagnosis of congenital defects of phagocytes. It is particularly intended for diagnosing conditions like chronic granulomatous disease or severe congenital neutropenia. This test is vital for those with family histories suggesting these disorders, aiding in early detection and management.
Special Instructions
All testing must be ordered by a qualified healthcare provider. A completed online order or paper test requisition form and a labeled specimen are required to initiate testing. For those using the Exome platform, special test instructions and options such as Exome-wide CNV Analysis or STAT Testing may enhance the testing process.
Limitations
The panel is limited by its detection capabilities, focusing primarily on genetic variations known and suspected to influence phagocyte function. Since the test is based on NGS technology with CNV assessment, it may not detect all genetic defects associated with congenital phagocyte disorders, particularly those outside the covered gene regions or of a type not identifiable by this method.
New York Approved
Methodology
NGS (CGP)
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