VWF Sequence Analysis (All Exons)
GTR Test Accession: Help GTR000521842.7
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2022-10-25
Last annual review date for the lab: 2023-06-08 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Hereditary von Willebrand disease; Von Willebrand disease type 2A; Von Willebrand disease type 2B; ...
Genes (1): Help
VWF (12p13.31)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
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Ordering Information
Offered by: Help
Versiti Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Stefanie Dugan, Genetic Counselor
stefanie.dugan@bcw.edu
4149376126
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 4970
Genetic counseling
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Test Comments: Help
von Willebrand disease (VWD) is the most common inherited bleeding disorder with a prevalence as high as 1% in the general population; it is the result of quantitative or qualitative defects in the von Willebrand factor (VWF) protein. Affected individuals have severe bleeding that can be life-threatening if not recognized … View more
This test has been assigned a DEX Z-Code, please visit app.dexzcodes.com
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity is >99% for mutations within the coding sequence and intron/exon borders. Clinical sensitivity is >99% for reported variants.
Assay limitations: Help
Rare polymorphisms within primer or probe regions may interfere with detection of gene variants. Large deletions and duplications are not detected.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number:
Status: Pending
Additional Information

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