Thrombotic Thrombocytopenic Purpura (TTP)/ADAMTS13 Genetic Analysis
Also known as: thrombotic microangiopathy, TMA, vWF73
Use
Diagnostic testing
Special Instructions
Ensure samples are collected as specified: Whole blood via standard phlebotomy, oral swab following kit instructions, or extracted DNA by contacting MNG Genetic Services. Maintain specimens at room or refrigerated temperatures; avoid freezing. Improper container use or hemolyzed/frozen samples will lead to rejection.
Limitations
This test does not consistently detect mosaicism or large chromosomal aberrations such as rearrangements and inversions that do not alter genomic copy number. It will not detect repeat expansions. False positives or negatives may occur due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, or mislabeled samples. Reliability of detecting low levels of heteroplasmy in mitochondrial DNA is limited. The clinical significance of variants may vary based on available information at the time of reporting.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51969-4
- 51969-4
- 50397-9
- 8251-1
- 80563-0
Result Turnaround Time
14-28 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 |