GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing
Use
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. 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.
Special Instructions
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing. For cases where the differential diagnosis remains broad, GATA2 may be evaluated as part of a gene panel. Targeted testing for familial variants is available for variants identified in the GATA2 gene. Call 800-533-1710 for more information.
Limitations
Next-generation sequencing may not detect all types of genomic variants. Depth of coverage may be variable for some target regions. Negative results do not rule out the diagnosis of a genetic disorder. There are regions of the GATA2 gene that may not be effectively evaluated due to technical limitations, including regions of homology and high guanine-cytosine content. This test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. Variant reclassification is not systematically reviewed but can be requested.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 95771-2
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 48767-8
- 85069-3
- 18771-6
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | <24 hours |