mtDNA - mitochondriopathy (Kearns-Sayre)
GTR Test Accession: Help GTR000567261.2
Last updated in GTR: 2019-04-23
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Kearns-Sayre syndrome
mtDNA: 1-16569 (full or targeted analysis)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with Mitochondriopathy
Not provided
Not provided
Ordering Information
Offered by: Help
Translational Metabolic Laboratory
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Test Order Code: Help
How to Order: Help
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Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
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Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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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
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
Target population: Help
Patients with Mitochondriopathy
Recommended fields not provided:
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
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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