Congenital Defects of Phagocytes Panel

Casandra

Casandra Test Code PG90781Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 16091CPT Code 81479

Congenital Defects of Phagocytes Panel

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This component uses next-generation sequencing combined with copy number variation analysis to examine 44 genes associated with congenital phagocyte defects, enabling detailed genetic insights into related disorders.

NGS Sequencing with CNV Analysis • CGP