von Willebrand Disease (VWF) Sequencing

Casandra

Casandra Test Code AR57065Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004379CPT Code 81408

von Willebrand Disease (VWF) Sequencing

Also known as: VWF NGS

Clinical Use

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Use

Von Willebrand disease (VWD) is the most common inherited bleeding disorder, categorized into types such as 1, 2A, 2B, 2M, 2N, or 3. The VWF sequencing test is designed to confirm a phenotypic diagnosis of these types or to be used as carrier screening for autosomal recessive forms of VWD. VWD is characterized by mucocutaneous bleeding, including symptoms such as bruising, gum bleeding, and nosebleeds. The disease results from pathogenic variants in the VWF gene, influencing platelet function crucial in hemostasis.

Special Instructions

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory. Informed consent for genetic testing is required for NY patients. The test includes sequencing of the VWF gene, excluding exons 26 and 34 and without deletion/duplication analysis.

Limitations

A negative test result does not exclude a diagnosis of von Willebrand disease. The test only identifies variants within coding regions and exon-intron boundaries of the VWF gene. Regulatory region variants and deep intronic variants are undetected. Sequencing does not cover some exons (26 and 34), and it does not assess large deletions/duplications. Detection of low-level mosaic or somatic variants associated with disease may be missed. Diagnostic errors can occur due to rare sequence variations.

Test Details