MITON - Overview: Mitochondrial Nuclear Gene Panel by Next-Generation Sequencing (NGS)

Test Catalog

Test Name

Test ID: MITON    
Mitochondrial Nuclear Gene Panel by Next-Generation Sequencing (NGS)

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

Diagnosis of the subset of mitochondrial disease that results from mutations in the nuclear-encoded genes

 

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 nuclear 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 test or proper submission of the test request

This test includes next-generation sequencing and Sanger sequencing to evaluate for the genes listed on the panel. 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 test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situation(s) 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 Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular 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 when appropriate

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

Conditional

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

Mitochondrial Nuclear Gene Panel

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

Next Gen Sequencing Test
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
MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy