Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000569184.3
Last updated in GTR:
2024-08-30
View version history
GTR000569184.3,
last updated:
2024-08-30
GTR000569184.2,
last updated:
2023-08-11
GTR000569184.1,
registered in GTR:
2022-08-30
Last annual review date for the lab: 2024-08-30
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Hereditary disease
Human genome
Methods (1):
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Molecular Genetics - Targeted variant analysis: 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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- Cord blood
- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
Test Order Code:
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Targeted Variant(s)
View other test codes
View other test codes
CPT codes:
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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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Submit sample with completed requisition form
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Confirmation of research findings
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
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: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
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;
Mutation Confirmation
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Bioinformatic and clinical evidence are weighed and recommendations for followup to help determine clinical significance are made. ACMG/AMP guidelines used for variant classification.
Bioinformatic and clinical evidence are weighed and recommendations for followup to help determine clinical significance are made. ACMG/AMP guidelines used for variant classification.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Our VUS resolution program involves targeting additional family members for a VUS, with the intention of this additional information aiding in reclassification of the variant. In order to qualify for our VUS resolution program, your patient must have at least one VUS listed on a test report that was issued … View more
Yes. Our VUS resolution program involves targeting additional family members for a VUS, with the intention of this additional information aiding in reclassification of the variant. In order to qualify for our VUS resolution program, your patient must have at least one VUS listed on a test report that was issued … View more
Will the lab re-contact the ordering physician if variant interpretation changes?
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Decline to answer.
Decline to answer.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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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> 99% accuracy for nucleotides evaluated; our analysis parameters are not designed to detect mosaicism.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Laboratory's policy on reporting novel variations
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Variants of uncertain significance are typically called if personal contact information for the physician or genetic counselor has been provided on the requisition form.
Variants of uncertain significance are typically called if personal contact information for the physician or genetic counselor has been provided on the requisition form.
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
Reviews:
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.