GTR Test Accession:
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GTR000521842.7
Last updated in GTR:
2022-10-25
View version history
GTR000521842.7,
last updated:
2022-10-25
GTR000521842.6,
last updated:
2022-06-09
GTR000521842.5,
last updated:
2019-01-16
GTR000521842.4,
last updated:
2016-08-10
GTR000521842.3,
last updated:
2016-03-03
GTR000521842.2,
last updated:
2015-03-23
GTR000521842.1,
registered in GTR:
2015-03-18
Last annual review date for the lab: 2024-11-15
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (8):
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Hereditary von Willebrand disease;
Von Willebrand disease type 2A;
Von Willebrand disease type 2B
more...
Genes (1):
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VWF (12p13.31)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Chorionic villi
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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CPT codes:
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Lab contact:
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Stefanie Dugan, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
SDugan@Versiti.org
(414) 937-6126
SDugan@Versiti.org
(414) 937-6126
Contact Policy:
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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:
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 4970
Genetic counseling
Result interpretation
OrderCode: 4970
Genetic counseling
Result interpretation
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 8
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Test Comments:
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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 …
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This test has been assigned a DEX Z-Code, please visit app.dexzcodes.com
This test has been assigned a DEX Z-Code, please visit app.dexzcodes.com
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity is >99% for mutations within the coding sequence and intron/exon borders. Clinical sensitivity is >99% for reported variants.
Assay limitations:
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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?
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No
No
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
NYS CLEP Approval:
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Number:
Status: Pending
Status: Pending
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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.