Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial TRNY 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:



Pulkes T et al. (2000) A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.


Sahashi K et al. (2001) Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia.


Raffelsberger T et al. (2001) CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.


Scaglia F et al. (2003) Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

Update: Sept. 26, 2018