Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Genetic confirmation of hereditary von Willebrand disease with the identification of alterations in the VWF gene known or suspected to cause the condition
Testing for close family members of an individual with a von Willebrand disease diagnosis
This test detects pathogenic alterations within the VWF gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of von Willebrand disease (VWD), a bleeding disorder of variable severity.
The gene target for this test includes the following:
Gene name (transcript): VWF (GRCh37 (hg19) NM_000552)
Chromosomal location: 12p13.31
Test ID | Reporting Name | Available Separately | Always Performed |
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CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
CULFB | Fibroblast Culture for Genetic Test | Yes | No |
MATCC | Maternal Cell Contamination, B | Yes | No |
A clinical and laboratory testing algorithm for von Willebrand disease (VWD) has been developed by the National Heart, Lung, and Blood Institute of the National Institutes of Health that is freely available at https://www.nhlbi.nih.gov/health-pro/guidelines/current/von-willebrand-guidelines.
The laboratory workup for VWD is complex and requires initial coagulation screening (including a CBC, platelet count, partial thromboplastin time (PTT), prothrombin time (PT), and fibrinogen or thrombin time) should be performed prior to any consideration of genetic testing. Genetic testing should not be performed until a definitive diagnosis of VWD has been made.
Prenatal genetic testing is not performed without the prior identification of familial VWF alterations.
For any cord blood or prenatal specimen that is received, maternal cell contamination studies will be added. A maternal whole blood sample is required to perform this test.
If amniotic fluid is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen is received, fibroblast culture will be added and charged separately.
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate