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. ![]() |
2. |
NCBI article NCBI 4555![]() |
3. |
OMIM.ORG article Omim 590015![]() |