von Willebrand Disease Types 1, 2, and 3 via the VWF Gene
Use
Individuals with relevant features who have a clinical or suspected diagnosis of von Willebrand disease. This test can help confirm a diagnosis or identify a genetic basis for the disease. It is also useful for reproductive partners of individuals with a known pathogenic variant in the VWF gene, aiding in family planning and genetic counseling.
Special Instructions
The test can be ordered through the exome or genome platform, depending on the type of analysis desired. Specimens that can be used for testing include blood, DNA, buccal samples, saliva, and tissue. Exome-wide CNV analysis can be added for additional insights. STAT testing is available at an additional cost for expedited results.
Limitations
The test has a turnaround time of 2 to 3 weeks, with STAT testing shortening this to 7 to 16 days. Results will depend on the quality and characteristics of the sample submitted, and genetic mutations outside the VWF gene are not detectable. The test has not been cleared by the FDA and is subject to state-specific regulation.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided