Fibrinogen Genetic Analysis
Also known as: Afibrinogenemia, Dysfibrinogenemia, Fibrinogen Genetic Sequencing, Fibrinogen Mutation Analysis, Hypofibrinogenemia
Use
Diagnostic testing
Special Instructions
Ensure that specimens, particularly whole blood and oral swabs, are collected and stored at room temperature or refrigerated at 4°C. Do not freeze samples, as this may cause rejection.
Limitations
The test may not consistently detect mosaicism or large chromosomal aberrations that do not change copy number. Repeat expansions are not detected by this assay. False positive or negative results might occur due to factors like rare genetic variants, sex chromosome abnormalities, pseudogene interference, and mislabeled samples. In cases of mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected, and the interpretation of variants is dependent on the available clinical information at the time of analysis.
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
Whole blood: 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 |