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VWD-Complete Genetic Panel (2 Day STAT TAT)
Clinical Genetic Test
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offered by
Machaon Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000592967.3
CAP
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2023-06-29
View version history
Last annual review date for the lab: 2023-04-07 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (4): Help
von Willebrand disease type 1; Pseudo von Willebrand disease; von Willebrand disease type 2; ...
Genes (1): Help
VWF (12p13.31)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
This test diagnoses and subtypes von Willebrand disease (VWD) and …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Machaon Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
P1205
How to Order: Help
Please visit lab website for details. Inquire about functional confirmation testing.
Order URL
Test service: Help
Custom Sequence Analysis
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 4
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
This test diagnoses and subtypes von Willebrand disease (VWD) and pseudo- or platelet-type VWD. VWD occurs with bleeding symptoms at rate of 1 in 1,000 in the general population. In 10% of those cases the bleeding is severe. This prevalence makes VWD the most common congenital bleeding disorder known.
View citations (1)
  • Von Willebrand's Disease. Leebeek FW, et al. N Engl J Med. 2016;375(21):2067-2080. doi:10.1056/NEJMra1601561. PMID: 27959741.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Von Willebrand's Disease. Leebeek FW, et al. N Engl J Med. 2016;375(21):2067-2080. doi:10.1056/NEJMra1601561. PMID: 27959741.

Recommended fields not provided:
Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
During validation, no false negatives or false positive results were observed. Analytical specificity and sensitivity are >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.