Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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. 
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| 2. |
Kearsey SE et al. (1981) Altered ribosomal RNA genes in mitochondria from mammalian cells with chloramphenicol resistance.
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| 3. |
NCBI article NCBI 4550
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| 4. |
OMIM.ORG article Omim 561010
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| 5. |
Wikipedia article Wikipedia EN (RNR2)
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