Invitae GATA2 Deficiency Test

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  • Test code: 05317
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
Billing

Test description

This test analyzes GATA2, a gene that is associated with GATA2 deficiency, an autosomal dominant condition characterized by a susceptibility to familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML), immunodeficiency, pulmonary disease, and vascular/lymphatic dysfunction.

Genetic testing of this gene may establish or confirm a diagnosis and help guide treatment and management decisions. Identification of a disease causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

If the patient has undergone a bone marrow transplant prior to genetic testing or currently has a hematological malignancy with actively circulating tumor cells, testing a sample type that is not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, though deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

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Primary panel (1 gene)

GATA2

Alternative tests to consider

These genes can also be ordered as part of broader panels. Depending on the individual’s clinical and family history, one of these panels may be appropriate and can be ordered at no additional charge.

  • GATA2 deficiency
    • familial myelodysplastic (MDS)/acute myeloid leukemia (AML) syndrome
    • Emberger syndrome
    • immunodeficiency-21 (IMD21)
    • monocytopenia and mycobacterial infection (MonoMAC)

GATA2-related conditions are characterized by primary immunodeficiency with a predisposition to MDS/AML. The median age of onset is 20 years, with approximately one-quarter of patients presenting with MDS/AML at diagnosis. Affected individuals and their family members may also have a history of viral infections, lymphedema, fungal infections, and pulmonary hypertension (PAH) or pulmonary alveolar proteinosis (PAP). Risk of MDS/AML is up to 70% in carriers of a pathogenic variant. Some carriers of a pathogenic variant may be asymptomatic well into adulthood. A subset of patients are diagnosed with Emberger’s syndrome, a condition that is characterized by primary lymphedema, cutaneous warts, deafness, and a susceptibility to MDS/AML.

GATA2 is the only known gene associated with GATA2 deficiency.

GATA2 deficiency is inherited in an autosomal dominant pattern.

The incidence of GATA2 deficiency is unknown.

Testing for germline GATA2 mutations is recommended for individuals with MDS, AML, or other myeloid malignancies and:

  • a family history of MDS/AML
  • a known familial mutation in GATA2
  • a personal or family history of viral, mycobacterial, or fungal infections (related to immunodeficiency)
  • primary lymphedema

If the patient has undergone a bone marrow transplant prior to genetic testing or currently has a hematological malignancy with actively circulating tumor cells, testing a sample type that is not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, though deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Assay notes

If the patient has undergone a bone marrow transplant prior to genetic testing or currently has a hematological malignancy with actively circulating tumor cells, testing a sample type that is not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, though deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
GATA2 NM_032638.4