GTR Test Accession:
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GTR000501979.1
Registered in GTR:
2013-11-11
View version history
GTR000501979.1,
registered in GTR:
2013-11-11
Last annual review date for the lab: 2024-03-13
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At a Glance
Test purpose:
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Diagnosis
Conditions (3):
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Mitochondrial DNA depletion syndrome, encephalomyopathic form;
Mitochondrial DNA depletion syndrome 1;
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Mitochondrion
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Other
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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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,
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 3
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Other
Roche LightCycler 480
Clinical Information
Test purpose:
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Diagnosis
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
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?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Comments:
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Quantitative Analysis; Test Method: qPCR
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Sensitivity >90%, specifity >90%
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
Reviews:
Clinical resources:
Consumer resources:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.