Mitochondrial TRNC gene
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Genetests:
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
Related Diseases:
References:
| 1. |
McFarland R et al. (2007) Homoplasmy, heteroplasmy, and mitochondrial dystonia. [^] |
| 2. |
Manfredi G et al. (1996) Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. [^] |
| 3. |
Santorelli FM et al. (1997) Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy. [^] |
| 4. |
NCBI article NCBI 4511 [^] |
| 5. |
OMIM.ORG article Omim 590020 [^] |
Update: April 29, 2019
