Thrombotic Microangiopathy (TMA) Comprehensive Genetic Analysis, Includes TTP and aHUS
Also known as: Thrombotic Thrombocytopenic Purpura, TTP
Use
Diagnostic testing; pharmacogenetics
Special Instructions
Ensure proper specimen collection method is followed based on the type: standard phlebotomy for whole blood, kit instructions for oral swab, and contact MNG Genetic Services for extracted DNA. Proper container use and temperature maintenance are crucial for specimen stability.
Limitations
The assay will not consistently detect mosaicism, large chromosomal aberrations such as rearrangements and inversions, or repeat expansions. False positives or negatives may occur due to factors like insufficient information on rare genetic variants, pseudogene interference, or mislabeled samples. The interpretation of genetic variants may evolve as new information becomes available.
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 |