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. |
McFarland R et al. (2007) Homoplasmy, heteroplasmy, and mitochondrial dystonia. 
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| 2. |
Manfredi G et al. (1996) Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
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| 3. |
Santorelli FM et al. (1997) Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.
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| 4. |
NCBI article NCBI 4511
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| 5. |
OMIM.ORG article Omim 590020
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