Thrombocytopenia Genetic Analysis
Also known as: Hereditary Thrombocytopenia
Use
Diagnostic testing
Special Instructions
This test should be ordered by healthcare providers with clinical expertise in genetic diagnostics. It includes a comprehensive panel of genes associated with thrombocytopenia, enhancing the ability to identify hereditary factors. Proper specimen handling and collection instructions must be followed to ensure the accuracy of results.
Limitations
The test has limitations in detecting mosaicism or large chromosomal aberrations such as inversions and rearrangements that do not affect copy number. Repeat expansions and low levels of heteroplasmy in mitochondrial DNA are not consistently detected. Possible false positive or false negative results may arise due to rare genetic variants and factors such as blood transfusions, bone marrow transplants, and mislabeled samples. Accurate interpretation is contingent upon the quality of clinical information provided.
Methodology
NGS
Biomarkers
LOINC Codes
- 51969-4
- 51969-4
- 50397-9
- 8251-1
- 80563-0
Result Turnaround Time
20-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | do not freeze |