von Willebrand Disease, Type 2N (VWF) Sequencing (Temporary Referral as of 02/10/21)

Background Information for von Willebrand Disease, Type 2N (VWF) Sequencing:
Characteristics: Mucocutaneous bleeding after brushing or flossing teeth, unexplained bruising, prolonged repeated nosebleeds, menorrhagia, and prolonged bleeding following childbirth, trauma or surgery. Symptoms of type 2N are similar to mild hemophilia A.
Incidence: Approximately 1 in 100 to 1 in 1000 individuals.
Inheritance: Autosomal recessive.
Cause: Pathogenic VWF mutations.
Clinical Sensitivity: Unknown for VWD type 2N.
Methodology: Bidirectional sequencing of VWF exons 4, 9, 17, 18, 19, 20, 21, 24, 25, and 27 and the corresponding intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.  Mutations lying outside of VWF exons 4, 9, 17, 18, 19, 20, 21, 24, 25, and 27 will not be evaluated.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.