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mtDNA - mitochondriopathy (Kearns-Sayre)
Clinical Genetic Test
Help
offered by
Translational Metabolic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000567261.2
INHERITED DISEASECARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2019-04-23
View version history
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Kearns-Sayre syndrome
Chromosomal regions/ Mitochondria (1): Help
mtDNA: 1-16569 (full or targeted analysis)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with Mitochondriopathy
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Translational Metabolic Laboratory
View lab's website
View lab's test page
Test Order Code: Help
mtdna-mitochondriopathy-kearns-sayre
How to Order: Help
See website
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Specimen source, Lab contact for this test, Contact policy, Test strategy
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 *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Patients with Mitochondriopathy
Recommended fields not provided:
Clinical validity, Clinical utility, 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
With full mtDNA screening, Single Nucleotide Variants (SNVs) can be detected as low as 5% heteroplasmy and insertions/deletions (InDels) as low as 20% heteroplasmy. With targeted analysis, variants can be detected as low as 1% heteroplasmy.
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

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.