Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial TRNT 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:



Grasbon-Frodl EM et al. (1999) Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease.


Brown MD et al. (1992) Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy.


Yoon KL et al. (1991) Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.


Jia Z et al. (2013) Coronary heart disease is associated with a mutation in mitochondrial tRNA.

Update: Sept. 26, 2018