Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial ATP8 gene

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


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:



Ware SM et al. (2009) Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.


Galimberti CA et al. (2006) Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.


Jonckheere AI et al. (2008) A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.


Yu X et al. (2009) The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse.


Lam CW et al. (1997) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy.

Update: Sept. 26, 2018