| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: PHAGP
Phagocytic Primary Immunodeficiency (PID) Gene Panel, Varies
Useful For 
Suggests clinical disorders or settings where the test may be helpful
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
Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for the genes listed on the panel.
Highlights
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.
Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | No |
| CRYOB | Cryopreserve for Biochem Studies | No | No |
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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.
Special Instructions Library of PDFs including pertinent information and forms related to the test
Method Name A short description of the method used to perform the test
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing
NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
CEBPE
Chronic granulomatous disease (CGD)
Congenital disorder of glycosylation (CDG), type Ia
CSF2RA
CTSC
CYBA
CYBB
FERMT3
FPR1
G6PD
Haim-Munk syndrome
Hemolytic anemia
Immunodeficiency 34
ITGB2
Juvenile periodontitis
Leukocyte adhesion deficiency type I
Leukocyte adhesion deficiency type III
MPO
Myeloperoxidase deficiency
NCF2
NCF4
Netherton syndrome
Papillon-Lefevre syndrome
PMM2
Pulmonary alveolar proteinosis
RASGRP2
Specific granule deficiency
SPINK5
Primary Immunodeficiency