GTR Test Accession:
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GTR000509265.2
Last updated in GTR:
2019-07-01
View version history
GTR000509265.2,
last updated:
2019-07-01
GTR000509265.1,
registered in GTR:
2018-07-05
Last annual review date for the lab: 2023-07-21
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (2):
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Usher syndrome type 2C;
Febrile seizures, familial, 4
Genes (1):
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ADGRV1 (5q14.3)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
Pregnancies at-risk for familial mutations
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Who can order: Help
- Licensed Physician
Test Order Code:
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2367
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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For specimen requirements and shipping conditions, please check the test code specific information page. To view the test code specific information page, simply type the test code into the MGL search box found on our home page. Label all specimen tubes with full name and date of birth of the …
Order URL
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:
Specimen source,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 2
| 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 *
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Pregnancies at-risk for familial mutations
Recommended fields not provided:
Clinical validity,
Clinical utility,
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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Sequencing Analytical Sensitivity >99%. Analytical Specificity >99% Precision >99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
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
Additional Information
Clinical resources:
Practice guidelines:
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.