Von Willebrand Disease (VWD) Evaluation

Also Known as (Alias) VWD Genotyping
Method Polymerase Chain Reaction (PCR) Based
Test Information Von Willebrand Disease (VWD) is one of the most common inherited bleeding disorders. This disorder is divided into three types, Type 1, Type 2 and Type 3. All types of this condition cause prolonged bleeding episodes of varying severity; Type 1 is the mildest of the three types and Type 3 is the most severe. Type 2 is intermediate in severity and is further divided into four subtypes. Type 2A VWD is the most common form of Type 2, accounting for 70% of the Type 2 diagnosis

Mutations in the von Willebrand Factor (VWF) gene cause VWD. This disease can have different inheritance patterns. Type 1 and Type 2 (2A, 2B, and 2M) are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Type 3 and Type 2N are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants.

If no candidate pathogenic variant is found in exon 28, reflex testing to Von Willebrand Disease Evaluation is performed by Sanger sequencing of 52 exons.

NHIBI Guidelines
VWF Mutation Database

Additional Test Information The Von Willebrand Disease Evaluation up to all 52 exons in order to identify candidate pathogenic variants.
Sample Requirements EDTA (lavender top)
Requested Volume 3-10cc EDTA (lavender top) tube

Analysis of amniocytes can be performed on cultured amniocytes. Two T-25 flasks of cells cultured to confluency will be accepted. Bloodworks Northwest does not have facilities to culture amniocytes.

Shipping Information Whole blood shipped at 4oC or ambient temperature is acceptable and should arrive in the lab within 48 hours.

Send samples to:
Bloodworks Northwest
Eastlake Bleeding Disorders Lab
1551 Eastlake Ave E. Suite 100
Seattle, WA 98102

Send cultured amniocyte samples to:
Bloodworks Northwest
Genomics Testing Laboratory
921 Terry Ave
Seattle, WA 98104

For additional information, please see Ordering Information-Bleeding Disorders

Requisition Form Request for Testing Eastlake Bleeding Disorders Laboratory
Transaction Code 3250-17
CPT Codes 81408 or 81479
Turn around Time (analytic time) 5 up to 30 business days
Report/Results Fax number required to receive report

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