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.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Seneca S et al. (2005) A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. 
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| 2. |
NCBI article NCBI 4555
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| 3. |
OMIM.ORG article Omim 590015
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