GTR Test Accession:
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GTR000592974.2
CAP
Last updated in GTR:
2023-06-29
View version history
GTR000592974.2,
last updated:
2023-06-29
GTR000592974.1,
registered in GTR:
2023-04-07
Last annual review date for the lab: 2024-04-04
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At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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Upshaw-Schulman syndrome
Genes (1):
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ADAMTS13 (9q34.2)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
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Congential TTP (Upshaw-Schulman disorder) is due to genetic defects in …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
- Licensed Physician
Test Order Code:
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P1207
How to Order:
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Please visit lab website for details. Inquire about functional confirmation testing.
Order URL
Order URL
Test service:
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Custom Sequence Analysis
Result interpretation
Result interpretation
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Decline to answer
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:
Lab contact for this test,
Contact policy,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical validity:
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Congential TTP (Upshaw-Schulman disorder) is due to genetic defects in the ADAMTS13 gene. Deficient activity of ADAMTS13, which is responsible for cleaving large multimers of Von Willebrand factor (vWF) into smaller units, leads to thrombotic microangiopathy. This panel is used to identify genetic defects in ADAMTS13.
Recommended fields not provided:
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.