GTR Test Accession:
Help
GTR000501916.2
Last updated in GTR: 2014-09-10
View version history
GTR000501916.2, last updated: 2014-09-10
GTR000501916.1, last updated: 2013-05-23
Last annual review date for the lab: 2024-03-13
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (5):
Help
Mitochondrial DNA Deletion Syndromes; Kearns-Sayre syndrome; Mitochondrial disease; ...
Mitochondrion
Methods (1):
Help
Molecular Genetics - Deletion/duplication analysis: Other
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Decline to answer
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Test Order Code,
How to Order,
Lab contact for this test,
Contact policy,
Test strategy
Conditions
Help
Total conditions: 5
Condition/Phenotype | Identifier |
---|
Test Targets
Chromosomal regions/Mitochondria
Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Deletion/duplication analysis
Other
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
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:
Help
Long range PCR; Southern Blot Analysis, qualitative and quantitative
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Sensitivity >95%, specifity >98%
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
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:
Help
Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
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.