Test Catalog

Test ID: VWFNG    
von Willebrand Disease, VWF Gene, Next-Generation Sequencing, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULAFAmniotic Fluid Culture/Genetic TestYesNo
CULFBFibroblast Culture for Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

VWF Gene, Full Gene NGS

Aliases Lists additional common names for a test, as an aid in searching

von Willebrand factor
von Willebrand disease