GTR Test Accession:
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GTR000500592.6
Last updated in GTR: 2022-07-11
View version history
GTR000500592.6, last updated: 2022-07-11
GTR000500592.5, last updated: 2021-08-04
GTR000500592.4, last updated: 2020-08-05
GTR000500592.3, last updated: 2019-08-14
GTR000500592.2, last updated: 2016-03-14
GTR000500592.1, last updated: 2014-02-19
Last annual review date for the lab: 2023-07-28
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At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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Abnormality of mitochondrial metabolism
Mitochondrion
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: PCR
Target population: Help
Not provided
Clinical validity:
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Mitochondrial DNA Deletion Syndromes include Kearns-Sayre syndrome (KSS), Pearson syndrome, …
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
Test Order Code:
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2258
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.
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
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:
How to Order,
Test strategy,
Test development
Conditions
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Total conditions: 1
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
PCR
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical validity:
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Mitochondrial DNA Deletion Syndromes include Kearns-Sayre syndrome (KSS), Pearson syndrome, Chronic progressive external ophthalmoplegia (PEO), Leigh syndrome. A retrospective analysis of an Italian cohort of 253 individuals with a single mtDNA deletion showed 6.6% had classic KSS, 31.6% met criteria for KSS spectrum, 64.5% had PEO, and 2.6% had Pearson …
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View citations (1)
- GeneReviews: NBK1203
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. Kleinle S, et al. Hum Genet. 1997;100(5-6):643-50. doi:10.1007/s004390050567. PMID: 9341886.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
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:
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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The method used allowes the detection of deletions and duplications in the mitochondrial genome bigger than 2 Kb, and reaches a sensitivity above 95%. However, heteroplasmy is not quantified. For validation, samples from patients with previously identified mitochondrial deletions were analyzed.
View citations (1)
- Wong LJ, Boles RG. Mitochondrial DNA analysis in clinical laboratory diagnostics. Clin Chim Acta. 2005;354(1-2):1-20. doi:10.1016/j.cccn.2004.11.003. Epub 2005 Jan 27. PMID: 15748595.
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,
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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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.