Ordering Recommendation

Molecular test to confirm a phenotypic diagnosis of von Willebrand disease (VWD) types 1, 2A, 2B, 2M, 2N, or 3. May also be used as carrier screening for autosomal recessive forms of VWD.

Mnemonic

VWF NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Note

Gene Tested: VWF (NM_000552)
Exons 26 and 34 are not covered by sequencing, and deletion/duplication analysis is not available for this gene.

Hotline History

N/A

CPT Codes

81408

Components

Component Test Code* Component Chart Name LOINC
3004380 von Willebrand Disease Specimen 66746-9
3004381 von Willebrand Disease Interp 40970-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • von Willebrand disease (VWD)
  • von Willebrand factor deficiency
  • VWD type 1
  • VWD type 2
  • VWD type 2A
  • VWD type 2M
  • VWD type 3
  • VWD type B
  • VWF gene
von Willebrand Disease (VWF) Sequencing