Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000501909.6
Last updated in GTR:
2024-02-22
View version history
GTR000501909.6,
last updated:
2024-02-22
GTR000501909.5,
last updated:
2023-09-29
GTR000501909.4,
last updated:
2020-10-30
GTR000501909.3,
last updated:
2019-11-06
GTR000501909.2,
last updated:
2016-04-18
GTR000501909.1,
registered in GTR:
2013-05-23
Last annual review date for the lab: 2024-09-13
LinkOut
At a Glance
Methods (1):
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Molecular Genetics - Sequence analysis of select exons: 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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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
View lab's website
View lab's test page
View lab's website
View lab's test page
Specimen Source:
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- Bone marrow
- Cell culture
- Fibroblasts
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- Saliva
Test Order Code:
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THALS
CPT codes:
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How to Order:
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Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form.
Order URL
Order URL
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 |
|---|
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 select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
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
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 and specificity = ~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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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.