Transgenomic has launched the Nuclear Mitome Test, a genetic test designed to aid physicians in the diagnosis of mitochondrial disorders.
The Nuclear Mitome Test uses next-generation sequencing technology to identify mutations in more than 400 genes.
Sihoun Hahn, director of biochemical genetics at Seattle Children's Hospital, professor of paediatrics at the University of Washington, and inventor of the new test, said determining the specific cause of the disease can be quite challenging in patients with mitochondrial disorders.
Hahn added that hundreds of genes have been identified as causative or potentially related to mitochondrial diseases that can have symptoms affecting many parts of the body, such as muscle, liver and the nervous system.
Using the Nuclear Mitome Test to find the defective genes, clinicians will be able to make a more precise diagnosis and plan the most effective treatment, Hahn concluded.
