Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
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
Special Instructions Library of PDFs including pertinent information and forms related to the test
- Muscle Biopsy Specimen Preparation
- Molecular Genetics: Biochemical Disorders Patient Information
- Informed Consent for Genetic Testing
- Targeted Genes Interrogated by Mitochondrial Nuclear Gene Panel
- Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
- Neuromuscular Myopathy Testing Algorithm
- Informed Consent for Genetic Testing (Spanish)
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
Aliases Lists additional common names for a test, as an aid in searching
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
Autosomal progressive external ophthalmoplegia
Alpers-Huttenlocher syndrome
Mitochondrial depletion syndrome
Chronic progressive external ophthalmoplegia
CPEO
Kearns-Sayre syndrome
Leber's hereditary optic neuropathy
LHON
MELAS
MERRF
mtDNA
Myoclonic epilepsy with ragged red fibers
NARP
Neurogenic muscle weakness, ataxia, and retinitis pigmentosa
Pearson syndrome
Next Gen Sequencing Test