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Mitochondrial DNA Deletion Syndromes
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000500592.6
OTHER CLINICAL
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
Conditions (1): Help
Abnormality of mitochondrial metabolism
Chromosomal regions/ Mitochondria (1): Help
Mitochondrion
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: PCR
Target population: Help
Not provided
Clinical validity: Help
Mitochondrial DNA Deletion Syndromes include Kearns-Sayre syndrome (KSS), Pearson syndrome, …
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
2258
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
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
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
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 … View more
View citations (1)
  • GeneReviews: NBK1203
Clinical utility: Help
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? 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
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? Help
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: Help
Not provided
Additional Information
Consumer resources:

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