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Test Code GATA2 SEQ GATA2 Gene Sequencing

Important Note

Test availability is limited to Seattle Children’s Hospital and University of Washington patients.

Clinical System Name

GATA2 Gene Sequencing


Mammalian Susceptibility to Mycobacterial Disease



GATA2 deficiency is an autosomal dominant disease characterized by monocytopenia and susceptibility to mycobacterial infections (MonoMAC). GATA2 is a zinc finger transcription factor required for proper development of hematopoietic cells including myeloid cells. Missense, frameshift, splice site, and large intragenic deletions in GATA2 have been reported to date. GATA2 also plays a role in the transcriptional regulation of endothelial nitric oxide synthetase (eNOS).


Sample Requirements

Specimen: Whole blood

Container(s): Dark Green/Sodium Heparin, Lavender/EDTA

Preferred Vol: 5 mL

Minimum Vol: 3 mL


Specimen: Extracted DNA

Minimum: 5µg

Note: DNA concentration minimum 100 µg/mL; 260/280 ratio 1.70-2.00


Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Processing Instructions

Reject due to: Clotting

Spin: No

Aliquot: No

Temp: Room temperature

Storage location: Molecular Genetics Box in CPA refrigerator#2



Off-site collection:

Refrigerate blood samples until ready to ship. Transport all sample types at room temp via overnight shipping



Specimen Type Temperature Time
Cultured cells Room temp 3 days
Whole blood, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen 5 years


Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.


STAT Performed TAT
Contact lab Monday - Friday 8-10 weeks


Performing Laboratory

Seattle Children's Laboratory


Department: Molecular Genetics Laboratory


Lab Client Services: 206-987-2617,

Lab Genetic Counselor:


Reference Range

Interpretive report will be provided


Method:  Bidirectional sequencing


Limitations: Mutations in the promoter region, large deletions, large duplications, or rare recombinant mutations may not be detected by this method.

CPT Codes


Clinical Utility

GATA2 deficiency Key Clinical and Laboratory Features: 

  • Common clinical features: Severe viral infections (HPV, HSV, EBV, CMV, VZV), invasive mycobacterial infections, malignancies (MDS, AML, CMML), lymphedema (Emberger syndrome), pulmonary alveolar proteinosis
  • Other clinical features: Sensorineural hearing loss, hypothyroidism
  • Physical exam: Papillomas (HPV), lymphedema in a subset of patients, pulmonary findings
  • Common laboratory features: Monocytopenia, B-cell lymphopenia, NK cell deficiency, CD4+ T-cell lymphopenia – all are somewhat variable. Immunoglobulin levels and specific antibody responses may be low. Bone marrow biopsy will show signs of myelodysplasia.