Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial TRNA gene

The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.

Genetests:

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:

References:

1.

Horváth R et al. (2003) A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.

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2.

Swalwell H et al. (2006) Pure myopathy associated with a novel mitochondrial tRNA gene mutation.

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Update: Sept. 26, 2018