Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial TRNC 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:

MELAS syndrome
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

References:

1.

McFarland R et al. (2007) Homoplasmy, heteroplasmy, and mitochondrial dystonia.

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2.

Manfredi G et al. (1996) Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.

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3.

Santorelli FM et al. (1997) Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.

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4.

NCBI article

NCBI 4511 [^]
5.

OMIM.ORG article

Omim 590020 [^]
Update: April 29, 2019