Test ID: PHAGP    
Phagocytic Primary Immunodeficiency (PID) Gene Panel

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of primary immunodeficiency due to phagocytic defects, chronic granulomatous disease, or related disorders

Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

Identifying variants within genes known to be associated primary immunodeficiency due to phagocytic defects, chronic granulomatous disease, or related disorders allowing for predictive testing of at-risk family members

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for the genes listed on the panel.

This test uses next-generation sequencing to test for variants in the CEBPE, CSF2RA, CTSC, CYBA, CYBB, FERMT3, FPR1, G6PD, ITGB2, MPO, NCF2, NCF4, PMM2 (CDG1), RASGRP2, SPINK5 genes.

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

• Informed Consent for Genetic Testing
• Primary Immunodeficiencies Patient Information
• Informed Consent for Genetic Testing (Spanish)

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing