von Willebrand Disease Genetic Analysis
Also known as: von Willebrand Genetic Sequencing, von Willebrand Mutation Analysis, vWD
Use
Diagnostic testing
Special Instructions
Not provided.
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
GP1BA, VWF
Gene
LOINC Codes
- 51969-4 - Gene analysis narr rpt Doc
- 41768-3 - VWF gene Mut Anl Bld/T
- 50397-9 - Mol dx interp Bld/T Ql
- 8251-1 - Service Cmnt-Imp
- 80563-0 - Report
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 |
Other tests from different labs that may be relevant