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Test Code GATAS GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies

Important Note

Only collect blood specimens Monday-Thursday due to shipping time to Mayo Clinic Laboratories in Rochester


Ordering Guidance


For cases where the differential diagnosis remains broad, GATA2 may be evaluated as part of a gene panel. See HLHGP / Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Varies; SCCNP / Severe Congenital and Cyclic Neutropenia Gene Panel, Varies; or EBLPD / Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies.

 

Targeted testing for familial variants (also called site-specific or known variants testing) is available for variants identified in the GATA2 gene. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about testing option, call 800-533-1710.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.

Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. GATA2 Gene Sequencing Patient Information (T811) is recommended.

Secondary ID

619802

Useful For

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

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the GATA2 gene associated with GATA-binding protein 2 (GATA2) deficiency.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for GATA2 deficiency.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

GATA2 Gene, Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL; Skin biopsy or cultured fibroblasts: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

GATA-binding protein 2 (GATA2) deficiency causes multiple previously distinct clinical entities, including DCML deficiency (dendritic cell, monocyte, B and natural killer [NK] cell lymphocyte deficiency), MonoMAC syndrome (monocytopenia with Mycobacterium avium complex infection), Emberger syndrome (myelodysplastic syndrome [MDS] with lymphedema), NK cell deficiency, and familial MDS/acute myeloid leukemia. As such, there is a wide spectrum of clinical features, including severe viral infections (particularly with human papillomavirus, molluscum contagiosum, herpes simplex virus, Epstein-Barr virus, and cytomegalovirus), warts, fungal infections (particularly histoplasmosis and aspergillosis), mycobacterial infections, pulmonary alveolar proteinosis, bone marrow hypocellularity, neutropenia, sensorineural hearing loss, and congenital lymphedema. Immunological phenotypes include dendritic cell, monocyte, CD4+ T cell, B- and NK- cell deficiencies. Also, the loss of a specific NK-cell subset, CD56 bright NK cells, has been reported in these patients.

 

GATA2 is a zinc finger transcription factor involved in hematopoiesis, maintenance of the hematopoietic stem cell (HSC) pool, and for HSC progenitor differentiation. Disease-causing genetic variants in GATA2 result in loss-of-function and haploinsufficiency and are transmitted in an autosomal dominant manner or arise de novo. Null variants (frameshift, nonsense, splicing, and large deletions) account for most cases, while missense variants account for approximately 30% of cases, and noncoding variants in an intronic enhancer element and synonymous variants that impact splicing account for the remainder of cases. Genotype-phenotype correlations are difficult to make, as there is considerable clinical heterogeneity. Incomplete penetrance has been observed with GATA2 deficiency, and the age at presentation varies; however, by age 60 years, the penetrance is estimated to be 90%. Additionally, there may be a role for environmental factors triggering certain infectious manifestations.

 

The definitive treatment for GATA2 deficiency is HSC transplantation. Early genetic diagnosis of GATA2 deficiency may aid in selecting management strategies and allow for family screening and counseling.

Reference Values

An interpretive report will be provided

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Varies

Report Available

28 to 42 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months; Cultured fibroblasts, skin biopsy: 1 month

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81479

88233- Tissue culture, skin, solid tissue biopsy (if appropriate)

88240- Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GATAS GATA2 Gene, Full Gene Analysis 95771-2

 

Result ID Test Result Name Result LOINC Value
619803 Test Description 62364-5
619804 Specimen 31208-2
619805 Source 31208-2
619806 Result Summary 50397-9
619807 Result 82939-0
619808 Interpretation 69047-9
619809 Additional Results 82939-0
619810 Resources 99622-3
619811 Additional Information 48767-8
619812 Method 85069-3
619813 Genes Analyzed 82939-0
619814 Disclaimer 62364-5
619815 Released By 18771-6