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Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies
Clinical Genetic Test
Help
offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000613250.1
Registered in GTR: 2024-05-24
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Mitochondrial DNA Deletion Syndromes
Genes (2): Help
MT-ND2 (); MT-ND4 ()
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: PCR
Target population: Help
individuals with previously detected large mitochondrial DNA (mtDNA) deletions that …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
DMITO
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
DMITO
View other test codes
LOINC codes: Help
**LOINC codes notice
Lab contact: Help
Elizabeth Selner, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
gcmolgen@mayo.edu
800-533-1710
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.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/618558#Specimen
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
This test is not recommended for first tier diagnostic testing for mitochondrial disorders. This is intended for assessing the heteroplasmy level of previously detected large mtDNA deletions and screening family members.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
PCR
Other
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Target population: Help
individuals with previously detected large mitochondrial DNA (mtDNA) deletions that need determination of heteroplasmy
View citations (1)
  • Legati A, Zanetti N, Nasca A, Peron C, Lamperti C, Lamantea E, Ghezzi D. Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA. J Mol Diagn. 2021;23(6):732-741. doi:10.1016/j.jmoldx.2021.03.002. Epub 2021 Mar 26. PMID: 33781964.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer. contact lab for details

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity, Clinical utility, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
This test is a droplet digital polymerase chain reaction method for determining heteroplasmy for large mitochondrial genome deletions.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Limit of detection for this assay is <10% heteroplasmy.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, SpliceAI, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel alterations and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
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
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.