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.

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.

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

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2.

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

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3.

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

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4.

Orphanet article

Orphanet ID 267449 [^]
5.

NCBI article

NCBI 4577 [^]
6.

OMIM.ORG article

Omim 590105 [^]
Update: April 29, 2019