Test Catalog

Test ID: MITOT    
Combined Mitochondrial Analysis, Mitochondrial Full Genome and Nuclear Gene Panel, Varies

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

Diagnosis of mitochondrial disease that results from mutations in either nuclear-encoded genes or the mitochondrial genome


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


Identification of mutations 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

This test includes next-generation sequencing and Sanger sequencing to evaluate for mutations in the nuclear genes listed on the panel and amplification of the entire mitochondrial genome by long-range polymerase chain reaction (LRPCR) followed by sequencing on the Illumina next-generation sequencing (NGS) platform to evaluate for mutations within the mitochondrial genome.


See Targeted Genes Interrogated by Mitochondrial Nuclear Gene Panel in Special Instructions for details regarding the targeted gene regions identified by this test.

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.


The following algorithms are available in Special Instructions:

-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm

-Neuromuscular Myopathy Testing Algorithm

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

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


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Combined Mitochondrial Analysis

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

Mitochondrial disease
Mitochondrial nuclear genes
Leigh syndrome
Coenzyme Q10 deficiency
Barth syndrome
Complex I deficiency
Complex II deficiency
Complex III deficiency
Complex IV deficiency
Complex V deficiency
Cytochrome cOxidase deficiency
Pyruvate Dehydrogenase deficiency
Mitochondrial neurogastrointestinal encephalomyopathy
Autosomal progressive external ophthalmoplegia
Alpers-Huttenlocher syndrome
Mitochondrial depletion syndrome
Chronic progressive external ophthalmoplegia
Kearns-Sayre syndrome
Leber's hereditary optic neuropathy
Myoclonic epilepsy with ragged red fibers
Neurogenic muscle weakness, ataxia, and retinitis pigmentosa
Pearson syndrome
Next Gen Sequencing Test