Test ID: GATA2    
GATA-Binding Protein 2 (<i>GATA2</i>), Full Gene, Next-Generation Sequencing, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency


Screening family members of patients with confirmed GATA2 deficiency

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.


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
CULFBFibroblast Culture for Genetic TestYesNo

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 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

Sequence Capture and Targeted Next-Generation 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

GATA2 Comprehensive Gene Sequencing

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

Acute myeloid leukemia (AML)
B cell lymphopenia
Dendritic cell lymphopenia
Dendritic cell, monocyte, B and NK lymphoid (DCML) deficiency
Emberger syndrome
GATA2 haploinsufficiency
Immunodeficiency 21
Monocytopenia and mycobacterial infection (MonoMAC) syndrome
Myelodysplastic syndrome
Mycobacterial infections
NK cell lymphopenia
Pulmonary alveolar proteinosis (PAP)
WILD syndrome
Next Gen Sequencing Test