Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial RNR2 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.

Blanc H et al. (1981) Different nucleotide changes in the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance on two human cell lines.

[^]
2.

Kearsey SE et al. (1981) Altered ribosomal RNA genes in mitochondria from mammalian cells with chloramphenicol resistance.

[^]
3.

NCBI article

NCBI 4550 [^]
4.

OMIM.ORG article

Omim 561010 [^]
5.

Wikipedia article

Wikipedia EN (RNR2) [^]
Update: April 29, 2019