Test Catalog

Test ID: SCNGP    
Congenital Neutropenia Primary Immunodeficiency (PID) Gene Panel

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 congenital neutropenia, cyclic neutropenia, or other primary immunodeficiency presenting with significant neutropenia

 

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 with primary immunodeficiencies characterized by significant neutropenia 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 AP3B1(HP2), CSF3R, CXCR4, ELANE(ELA2), G6PC3, GATA2, GFI1, HAX1, LAMTOR2(MAPBPIP), RAC2, SBDS, SLC37A4, TAZ, USB1(C16ORF57), VPS13B(COH1), VPS45, WAS, and WIPF1 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 IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

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.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Congenital Neutropenia PID Panel

Aliases Lists additional common names for a test, as an aid in searching

AP3B1(HP2)
Barth syndrome
Cohen syndrome
CSF3R
CXCR4
Cyclic neutropenia
Dursun syndrome
ELANE(ELA2)
Emberger syndrome
G6PC3
GATA2
GFI1
Glycogen storage disease Ib and Ic
HAX1
Hermansky-Pudlak syndrome 2
Immunodeficiency 21
LAMTOR2(MAPBPIP)
Myelokathexis Nonimmune chronic idiopathic
Neutrophil functional defects
RAC2
SBDS
Severe congenital neutropenia
Shwachman-Diamond syndrome
SLC37A4
TAZ
USB1(C16ORF57)
VPS13B(COH1)
VPS45
X-linked severe congenital neutropenia
X-linked thrombocytopenia
WAS
WHIM syndrome
WIPF1
Wiskott-Aldrich syndrome 2