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Mitochondrial DNA-Associated Leigh Syndrome and NARP
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000500595.7
Last updated in GTR: 2022-07-11
View version history
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Genes (26): Help
MT-ATP6 (), MT-ATP8 (), MT-CO1 (), MT-CO2 (), MT-CO3 (), ...
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity: Help
The most frequent variants associated to Leigh Syndrome and NARP …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2256
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
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: Help
Clinical Testing/Confirmation of Mutations Identified Previously
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:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 26
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
The most frequent variants associated to Leigh Syndrome and NARP are located in the mitochondrial region of the ATP6 gene. The m.8993T> G and m.8993T> C pathogenic variants probably show the strongest genotype-phenotype correlation, being the m.8993T>G more frequent and severe than m.8993T> C. Others variants are less frequent (T8851C, … View more
View citations (1)
  • Genereviews: NBK1173
Clinical utility: Help
Establish or confirm diagnosis
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.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing analysis approaches an analytical sensitivity of almost 100%. For test validation, samples from previuosly analyzed patients with a known variants were studied and correctly identified.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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
Not provided
Additional Information
Consumer resources:

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