von Willebrand Disease (VWF) Sequencing
Also known as: VWF NGS
Use
Von Willebrand disease (VWD) is the most common inherited bleeding disorder, categorized into types such as 1, 2A, 2B, 2M, 2N, or 3. The VWF sequencing test is designed to confirm a phenotypic diagnosis of these types or to be used as carrier screening for autosomal recessive forms of VWD. VWD is characterized by mucocutaneous bleeding, including symptoms such as bruising, gum bleeding, and nosebleeds. The disease results from pathogenic variants in the VWF gene, influencing platelet function crucial in hemostasis.
Special Instructions
Not provided.
Limitations
A negative test result does not exclude a diagnosis of von Willebrand disease. The test only identifies variants within coding regions and exon-intron boundaries of the VWF gene. Regulatory region variants and deep intronic variants are undetected. Sequencing does not cover some exons (26 and 34), and it does not assess large deletions/duplications. Detection of low-level mosaic or somatic variants associated with disease may be missed. Diagnostic errors can occur due to rare sequence variations.
Methodology
NGS (Massively Parallel Sequencing)
Biomarkers
VWF
Gene
LOINC Codes
- 66746-9 - Specimen type
- 40970-6 - VWF gene Mut Anl Bld/T
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant