von Willebrand Disease Genetic Analysis
Also known as: von Willebrand Genetic Sequencing, von Willebrand Mutation Analysis, vWD
Use
Diagnostic testing
Special Instructions
For additional insights into factor activity and antigen levels related to von Willebrand Disease, consider tests such as Factor VIII Activity and von Willebrand Factor (vWF) Antigen. These related tests provide important context to the genetic analysis and help form a comprehensive diagnostic profile.
Limitations
This test may not detect mosaicism reliably and is unable to identify large chromosomal aberrations, such as rearrangements and inversions, unless they alter the copy number. It does not detect repeat expansions and may yield false positive or false negative results due to various factors, including but not limited to rare variant information scarcity, sex chromosome abnormalities, homologous region interference, incorrect specimen labeling, or heteroplasmy levels that are too low for detection. The clinical significance of detected variants heavily depends on the context provided during sample submission and existing variant data, which may evolve over time.
Methodology
NGS
Biomarkers
LOINC Codes
- 51969-4
- 41768-3
- 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 |