GTR Test Accession:
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GTR000613214.1
Registered in GTR:
2024-04-25
View version history
GTR000613214.1,
registered in GTR:
2024-04-25
Last annual review date for the lab: 2024-05-22
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At a Glance
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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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- Skin
Who can order: Help
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Lab contact:
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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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To order a test, complete and submit a requisition form that can be found on our website (gps.wustl.edu)
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
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:
Test Order Code,
Test strategy,
Test development
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 26
| 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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Prognostic
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
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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For SNV variants with VAF 2.5% or greater, the sensitivity is 100%, for variants with VAF at 1.25%, 0.62%, 0.31%, and 0.15%, the sensitivity is 98.90%, 82.87%, 64.64%, and 61.33% respectively. The precision for all SNVs at different VAF levels is within a range of 94.35%-98.65%. For indel variants with …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Alternative Assessment
PT Provider: Help
Either expired CAP PT specimens or prior patient specimens
Yes
Method used for proficiency testing: Help
Alternative Assessment
PT Provider: Help
Either expired CAP PT specimens or prior patient specimens
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:
Consumer resources:
IMPORTANT NOTE:
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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.