Complement and Coagulation Mediated TMA (aHUS) Genetic Analysis
Also known as: thrombotic microangiopathy, Thrombotic Thrombocytopenic Purpura, TMA, TTP
Use
Diagnostic testing; pharmacogenetics
Special Instructions
The test includes the analysis of C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, PLG, THBD, MMACHC, and specific mutations in C5. Specimens can be collected as whole blood, oral swab, or extracted DNA with specific stability requirements.
Limitations
This analysis may not consistently detect mosaicism or confirm large chromosomal aberrations that do not involve changes in copy number such as rearrangements and inversions. The assay will not detect repeat expansions, and certain technical constraints may lead to false positives or negatives. Factors such as pseudogene interference, homologous regions, and sample labeling errors may also affect test accuracy. Interpretation relies on current variant databases, and clinical significance may change over time.
Methodology
NGS
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 |
| Frozen | do not freeze |