Mitochondrial RNR2 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. |
Blanc H et al. (1981) Different nucleotide changes in the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance on two human cell lines. [^] |
| 2. |
Kearsey SE et al. (1981) Altered ribosomal RNA genes in mitochondria from mammalian cells with chloramphenicol resistance. [^] |
| 3. |
NCBI article NCBI 4550 [^] |
| 4. |
OMIM.ORG article Omim 561010 [^] |
| 5. |
Wikipedia article Wikipedia EN (RNR2) [^] |
Update: April 29, 2019
