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Combined mtDNA+Nuclear Gene Panel
Clinical Genetic Test
Help
offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000604273.3
MITOCHONDRIAL DISEASEINHERITED DISEASEDYSMORPHOLOGY ... View more
Last updated 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
Conditions (12): Help
Mitochondrial disease; Complex V deficiency; Kearns-Sayre syndrome more...
Genes (221): Help
AARS2 (6p21.1); ABAT (16p13.2); ABCB7 (Xq13.3); ACACA (17q12); ACAD9 (3q21.3) more...
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals with clinical features mitochondrial disease.
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
CMITO
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
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/617103#Specimen
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: FMTT
    OrderCode: FMTT
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 12
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 221
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Mutation scanning of the entire coding region
PCR
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals with clinical features mitochondrial disease.
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.

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 utilizes next-generation sequencing to detect single nucleotide and copy number variants in 221 nuclear genes and amplification of the entire mitochondrial genome by long-range polymerase chain reaction.
Test Confirmation: Help
Confirmation of select reportable variants will be performed by alternate methodologies based on internal laboratory criteria.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Platform PT performed
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:
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
Reviews:
Clinical resources:
Molecular 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.