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HelpTest Code GATAS GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies
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.
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.
Special Instructions
Reporting Name
GATA2 Gene, Full Gene AnalysisSpecimen Type
VariesSpecimen 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.Reference Values
An interpretive report will be provided
Day(s) Performed
Varies
Report Available
28 to 42 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 months; Cultured fibroblasts, skin biopsy: 1 monthPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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 |