Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial TRNV gene

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

Related Diseases:



McFarland R et al. (2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.


Sacconi S et al. (2002) Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.


Tiranti V et al. (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

Update: Sept. 26, 2018