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. |
None (2001) Modifying with mitochondria. 
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| 2. |
Johnson KR et al. (2001) A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.
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| 3. |
Uusimaa J et al. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
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| 4. |
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
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| 5. |
NCBI article NCBI 4573
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| 6. |
OMIM.ORG article Omim 590005
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