Comprehensive Mitochondrial Mutation Detection
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000511385.3
MITOCHONDRIAL DISEASE
Last updated in GTR: 2020-01-30
Last annual review date for the lab: 2023-07-21 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Mitochondrial disease
Molecular Genetics - Mutation scanning of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
General population with clinical diagnosis of disease
Not provided
Not provided
Ordering Information
Offered by: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2055
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
For specimen requirements and shipping conditions, please check the test code specific information page. To view the test code specific information page, simply type the test code into the MGL search box found on our home page. Label all specimen tubes with full name and date of birth of the …
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Order URL
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:
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 *
Mutation scanning of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
General population with clinical diagnosis of disease
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity >99%. Analytical Specificity >99% Precision >99%
View citations (1)
  • Analytical validity of LDT is determined during validation of test following CLIA and CAP recommendations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.