Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

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

external link
3.

NCBI article

NCBI 4550 external link
4.

OMIM.ORG article

Omim 561010 external link
5.

Wikipedia article

Wikipedia EN (RNR2) external link
Update: Aug. 14, 2020
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