MITOP - Overview: Mitochondrial Full Genome Analysis by Next-Generation Sequencing (NGS)

Test Catalog

Test Name

Test ID: MITOP    
Mitochondrial Full Genome Analysis by Next-Generation Sequencing (NGS)

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of the subset of mitochondrial diseases that results from mutations in the mitochondrial genome


A second-tier test for patients in whom previous targeted gene mutation analyses for specific mitochondrial disease-related genes were negative


Identifying mutations within genes of the mitochondrial genome that are known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request


Next-generation sequencing (NGS) is used to test for the presence of mutations within the mitochondrial genome (includes 13 protein coding genes, 22 tRNA genes, and 2 rRNA genes). All reported sequence variants detected by Illumina NGS are confirmed using an orthogonal Ion Torrent NGS method.


Large deletions within the mitochondrial genome are first detected by gel electrophoresis (as size-shifted PCR bands), and the locations of the deletions in the mtDNA are then determined from the Illumina NGS data.


This assay is only useful for detecting mitochondrial genomic mutations. Depletion of mitochondrial DNA levels or mutations in mitochondrial genes encoded by the nuclear genome are not within the scope of this assay.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture will be added and charged separately.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

Long-range polymerase chain reaction (LRPCR) followed by both Illumina and Ion Torrent next-generation sequencing (NGS)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

Mitochondrial Full Genome Analysis

Aliases Lists additional common names for a test, as an aid in searching

Myoclonic Epilepsy with Ragged Red Fibers
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa
Leigh syndrome
Chronic progressive external ophthalmoplegia
Pearson syndrome
Next Gen Sequencing Test
Leber's hereditary optic neuropathy
Kearns-Sayre syndrome