von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies
Use
This test is useful for evaluating von Willebrand disease (VWD) and platelet-type von Willebrand disease in patients with a personal or family history suggestive of VWD. It assists in confirming diagnoses by identifying known or suspected disease-causing alterations in the VWF or GP1BA genes. The test also determines the disease-causing alterations for genetic counseling purposes, allows subtyping of VWD, and provides prognosis and risk assessment based on genotype-phenotype correlations. Carrier testing is also available for close family members of an individual with VWD or platelet-type VWD diagnosis.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and in rare cases, false-negative or false-positive results may occur. Technical limitations include regions of homology, high guanine-cytosine content, and repetitive sequences that may not be effectively evaluated. The test targets single and multi-exon deletions/duplications but may not detect balanced structural rearrangements like translocations or inversions. The test may also not distinguish between somatic and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
VWF, GP1BA
GeneVWF, GP1BA
Gene
LOINC Codes
- 105337-0 - VWF and GP1BA mut analy Spec
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 59465-5 - Path Rev
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA); Acceptable: Yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send in original tube; do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient preferred, stable for 4 days; refrigerated acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | Preferred |