Factor XIII Genetic Analysis
Also known as: Factor XIII Genetic Sequencing, Factor XIII Mutation Analysis
Use
Diagnostic testing
Special Instructions
For whole blood specimens, perform standard phlebotomy using a lavender-top (EDTA) tube. For oral swabs, use OCD-100 DNA Genotek kits and follow the provided instructions. For extracted DNA, contact MNG Genetic Services for guidance.
Limitations
This genetic analysis assay does not consistently detect mosaicism or large chromosomal aberrations that do not change copy numbers, such as rearrangements and inversions. It does not detect repeat expansions and may yield false positive or false negative results due to rare genetic variants, pseudogene interference, homologous regions, or errors associated with mislabeled samples. The assay is limited in detecting low levels of heteroplasmy and may not interpret clinical significance due to limitations in available variant data at the time of reporting. Changes in interpretation may occur as more clinical data becomes available.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 92991-9
- 92991-9
- 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 |