GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via the GATA2 Gene

  • Summary and Pricing
  • Clinical Features and Genetics
  • Citations
  • Methods
  • Ordering/Specimens
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Test Code Test Copy GenesIndividual Gene PriceCPT Code Copy CPT Codes
286 GATA2$680.00 81479 Add to Order

New York State Approved Test

Targeted Testing

For ordering targeted known variants, please proceed to our Targeted Variants landing page.

Turnaround Time

The great majority of tests are completed within 18 days.

Clinical Sensitivity
The sensitivity of this test is currently unknown.

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Deletion/Duplication Testing via aCGH

Test Code Test Copy GenesIndividual Gene PriceCPT Code Copy CPT Codes
600 GATA2$690.00 81479 Add to Order
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Over 100

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Turnaround Time

The great majority of tests are completed within 28 days.

Clinical Features
Acute myeloid leukemia (AML; OMIM 601626) is the most common form of adult leukemia (Vardiman et al. Blood 114:937, 2009) and myelodysplastic syndrome (MDS; OMIM 614286) is a clonal disorder of hematopoietic stem cells that can progress to AML. MDS and AML are most commonly sporadic, but have recently been described in conjunction with several rare familial disorders involving mutations in the GATA2 gene. These disorders include Emberger syndrome (OMIM 614038) (Ostergaard et al. Nat Genet 43:929, 2011) and combined immunodeficiencies termed, dendritic cell, monocyte, B and NK lymphoid deficiency (aka DCML; OMIM 614172) (Dickinson, et al. Blood 118:2656, 2011), or monocytopenia and mycobacterial infection syndrome (aka MonoMAC) (Hsu et al. Blood 118:2653, 2011). DCML/MonoMAC is characterized by decreased or absent dendritic cells, monocytes, B and natural killer (NK) cells, and moderately low T cell numbers. Patients have an increased susceptibility to disseminated nontuberculous mycobacterial infections, viral infections (e.g. HPV), and fungal infections (Vinh et al. Blood 115:1519, 2010; Bigley et al. J Exp Med 208: 227, 2011). Emberger syndrome is characterized by primary lymphedema, deafness, and varying degrees of pancytopenia. Onset of Emberger syndrome and DCML/MonMac is usually in childhood followed by progression to MDS and AML over decades. Mutations in the GATA2 gene have also been identified in families with hereditary MDS/AML but no other hematopoietic defects (Hahn et al. Nat Genet 43: 1012, 2011).
GATA2-related disorders are inherited in an autosomal dominant manner. Missense, nonsense, splicing mutations, and deletions are associated with all of the GATA2-related phenotypes, but haploinsufficiency or loss of GATA2 appear to be key predisposing factors for Emberger syndrome and primary lymphedema (Ostergaard et al. Nat Genet 43:929, 2011; Kazenwadel et al. Blood 119:1283, 2012). No predominant mutations in GATA2 have been identified, and patients with similar GATA2 mutations may have distinct phenotypes preceding development of MDS/AML. GATA2 encodes a zinc-finger transcription factor that plays a major role in hematopoiesis (Rodrigues et al. Blood 106:477, 2005) and vascular, urogenital, and neural development (Kazenwadel et al. Blood 119: 1283, 2012; Zhou, et al. EMBO J 17:6689, 1998; Kala et al. Development 136:253, 2009). In addition to mutations in GATA2, mutations in the RUNX1 and CEBPA genes, which encode other hematopoietic transcription factors, are also associated with hematological disorders and predisposition to MDS and AML (see Owen et al. J Br Haematol 140: 123, 2008).
Testing Strategy
This test involves bidirectional Sanger DNA sequencing of the 5 coding exons of the GATA2 gene plus ~10 bp of flanking non-coding DNA on either side of each exon. This test also includes targeted testing of an enhancer region in intron 5 where potential pathogenic variants have been identified (Hsu et al. Blood 121(19):3830-3837, 2013).  We will also sequence any single exon (Test #100) in family members of patients with a known mutation or to confirm research results.
Indications for Test
Individuals with frequent infections, lymphedema, deafness, and hematopoietic cell dysplasia.


Official Gene Symbol OMIM ID
GATA2 137295
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Acute Myeloid Leukemia (AML) via the CEBPA Gene
Lymphedema Sequencing Panel
Severe Congenital Neutropenia and Neutrophilia via the CSF3R Gene
Severe Congenital Neutropenia Sequencing Panel
Severe Congenital Neutropenia via the VPS45 Gene
Thiamine Responsive Megaloblastic Anemia via the SLC19A2 Gene
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene


Genetic Counselors
  • Bigley V, Haniffa M, Doulatov S, Wang X-N, Dickinson R, McGovern N, Jardine L, Pagan S, Dimmick I, Chua I, Wallis J, Lordan J, Morgan C, Kumararatne DS, Doffinger R, van der Burg M, van Dongen J, Cant A, Dick JE, Hambleton S, Collin M. 2011. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. Journal of Experimental Medicine 208: 227–234. PubMed ID: 21242295
  • Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang X-N, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. 2011. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 118: 2656–2658. PubMed ID: 21765025
  • Hahn CN, Chong C-E, Carmichael CL, Wilkins EJ, Brautigan PJ, Li X-C, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS. 2011. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nature Genetics 43: 1012–1017. PubMed ID: 21892162
  • Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, Frucht DM, Vinh DC, Auth RD, Freeman AF, Olivier KN, Uzel G, Zerbe CS, Spalding C, Pittaluga S, Raffeld M, Kuhns DB, Ding L, Paulson ML, Marciano BE, Gea-Banacloche JC, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. 2011. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 118: 2653–2655. PubMed ID: 21670465
  • Hsu, A.P. et al. (2013). "GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome." Blood 121(19):3830-3837. PubMed ID: 23502222
  • Kala, K. et al. (2009). "Gata2 is a tissue-specific post-mitotic selector gene for midbrain GABAergic neurons." Development 136(2):253-262. PubMed ID: 19088086
  • Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong C-E, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. 2011. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 119: 1283–1291. PubMed ID: 22147895
  • Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S. 2011. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nature Genetics 43: 929–931. PubMed ID: 21892158
  • Owen, C. et al. (2008). "Familial myelodysplasia and acute myeloid leukaemia--a review." British Journal of Haematology 140(2):123-132. PubMed ID: 18173751
  • Rodrigues, N.P. et al. (2005). "Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis." Blood 106(2):477-484.   PubMed ID: 15811962
  • Vardiman, J.W. et al. (2009). "The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes." Blood 114(5):937-951. PubMed ID: 19357394
  • Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, Spalding C, Hughes S, Pittaluga S, Raffeld M, Sorbara LR, Elloumi HZ, Kuhns DB, Turner ML, Cowen EW, Fink D, Long-Priel D, Hsu AP, Ding L, Paulson ML, Whitney AR, Sampaio EP, Frucht DM, DeLeo FR, Holland SM. 2009. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood 115: 1519–1529. PubMed ID: 20040766
  • Zhou, Y. et al. (1998). "Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA-2 in urogenital development." The EMBO Journal 17(22):6689-6700. PubMed ID: 9822612
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Bi-Directional Sanger Sequencing

Test Procedure

Nomenclature for sequence variants was from the Human Genome Variation Society (  As required, DNA is extracted from the patient specimen.  PCR is used to amplify the indicated exons plus additional flanking non-coding sequence.  After cleaning of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit.  Products are resolved by electrophoresis on an ABI 3730xl capillary sequencer.  In most cases, sequencing is performed in both forward and reverse directions; in some cases, sequencing is performed twice in either the forward or reverse directions.  In nearly all cases, the full coding region of each exon as well as 10 bases of non-coding DNA flanking the exon are sequenced.

Analytical Validity

As of February 2018, we compared 26.8 Mb of Sanger DNA sequence generated at PreventionGenetics to NextGen sequence generated in other labs. We detected only 4 errors in our Sanger sequences, and these were all due to allele dropout during PCR. For Proficiency Testing, both external and internal, in the 14 years of our lab operation we have Sanger sequenced roughly 14,300 PCR amplicons. Only one error has been identified, and this was an error in analysis of sequence data.

Our Sanger sequencing is capable of detecting virtually all nucleotide substitutions within the PCR amplicons. Similarly, we detect essentially all heterozygous or homozygous deletions within the amplicons. Homozygous deletions which overlap one or more PCR primer annealing sites are detectable as PCR failure. Heterozygous deletions which overlap one or more PCR primer annealing sites are usually not detected (see Analytical Limitations). All heterozygous insertions within the amplicons up to about 100 nucleotides in length appear to be detectable. Larger heterozygous insertions may not be detected. All homozygous insertions within the amplicons up to about 300 nucleotides in length appear to be detectable. Larger homozygous insertions may masquerade as homozygous deletions (PCR failure).

Analytical Limitations

In exons where our sequencing did not reveal any variation between the two alleles, we cannot be certain that we were able to PCR amplify both of the patient’s alleles. Occasionally, a patient may carry an allele which does not amplify, due for example to a deletion or a large insertion. In these cases, the report contains no information about the second allele.

Similarly, our sequencing tests have almost no power to detect duplications, triplications, etc. of the gene sequences.

In most cases, only the indicated exons and roughly 10 bp of flanking non-coding sequence on each side are analyzed. Test reports contain little or no information about other portions of the gene, including many regulatory regions.

In nearly all cases, we are unable to determine the phase of sequence variants. In particular, when we find two likely causative mutations for recessive disorders, we cannot be certain that the mutations are on different alleles.

Our ability to detect minor sequence variants, due for example to somatic mosaicism is limited. Sequence variants that are present in less than 50% of the patient’s nucleated cells may not be detected.

Runs of mononucleotide repeats (eg (A)n or (T)n) with n >8 in the reference sequence are generally not analyzed because of strand slippage during PCR and cycle sequencing.

Unless otherwise indicated, the sequence data that we report are based on DNA isolated from a specific tissue (usually leukocytes). Test reports contain no information about gene sequences in other tissues.

Deletion/Duplication Testing via Array Comparative Genomic Hybridization

Test Procedure

Equal amounts of genomic DNA from the patient and a gender matched reference sample are amplified and labeled with Cy3 and Cy5 dyes, respectively. To prevent any sample cross contamination, a unique sample tracking control is added into each patient sample. Each labeled patient product is then purified, quantified, and combined with the same amount of reference product. The combined sample is loaded onto the designed array and hybridized for at least 22-42 hours at 65°C. Arrays are then washed and scanned immediately with 2.5 µM resolution. Only data for the gene(s) of interest for each patient are extracted and analyzed.

Analytical Validity

PreventionGenetics' high density gene-centric custom designed aCGH enables the detection of relatively small deletions and duplications within a single exon of a given gene or deletions and duplications encompassing the entire gene. PreventionGenetics has established and verified this test's accuracy and precision.

Analytical Limitations

Our dense probe coverage may allow detection of deletions/duplications down to 100 bp; however due to limitations and probe spacing this cannot be guaranteed across all exons of all genes. Therefore, some copy number changes smaller than 100-300 bp within a targeted large exon may not be detected by our array.

This array may not detect deletions and duplications present at low levels of mosaicism or those present in genes that have pseudogene copies or repeats elsewhere in the genome.

aCGH will not detect balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype.

Breakpoints, if occurring outside the targeted gene, may be hard to define.

The sensitivity of this assay may be reduced when DNA is extracted by an outside laboratory.

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Ordering Options

myPrevent - Online Ordering
  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.


(Delivery accepted Monday - Saturday)

  • Collect 3 ml -5 ml (5 ml preferred) of whole blood in EDTA (purple top tube) or ACD (yellow top tube). For Test #500-DNA Banking only, collect 10 ml -20 ml of whole blood.
  • For small babies, we require a minimum of 1 ml of blood.
  • Only one blood tube is required for multiple tests.
  • Ship blood tubes at room temperature in an insulated container. Do not freeze blood.
  • During hot weather, include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube.
  • In cold weather, include an unfrozen ice pack in the shipping container as insulation.
  • At room temperature, blood specimen is stable for up to 48 hours.
  • If refrigerated, blood specimen is stable for up to one week.
  • Label the tube with the patient name, date of birth and/or ID number.


(Delivery accepted Monday - Saturday)

  • Send in screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml for NGS and Sanger tests and at least 5 µg of purified DNA at a concentration of at least 100 µg/ml for gene-centric aCGH, MLPA, and CMA tests, minimum 2 µg for limited specimens.
  • For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible.
  • DNA may be shipped at room temperature.
  • Label the tube with the composition of the solute, DNA concentration as well as the patient’s name, date of birth, and/or ID number.
  • We only accept genomic DNA for testing. We do NOT accept products of whole genome amplification reactions or other amplification reactions.


(Delivery preferred Monday - Thursday)

  • PreventionGenetics should be notified in advance of arrival of a cell culture.
  • Culture and send at least two T25 flasks of confluent cells.
  • Some panels may require additional flasks (dependent on size of genes, amount of Sanger sequencing required, etc.). Multiple test requests may also require additional flasks. Please contact us for details.
  • Send specimens in insulated, shatterproof container overnight.
  • Cell cultures may be shipped at room temperature or refrigerated.
  • Label the flasks with the patient name, date of birth, and/or ID number.
  • We strongly recommend maintaining a local back-up culture. We do not culture cells.
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