CentoMito®: Mitochondrial Disease Testing in the Clinical Practice
Mitochondrial diseases are genetic conditions that occur when mitochondria are failing to produce enough energy for the cell. Genetic mutations in the mitochondrial genome, or nuclear genes encoding proteins functional inside mitochondria, are causing developmental, neurological, muscular and cognitive disabilities with symptoms including poor growth, loss of muscle coordination, muscle weakness and pain, seizures, vision and/or hearing loss, gastrointestinal issues, learning disabilities and organ failure.
- Introduction on mitochondrial genetic disorders
- CentoMito™, CENTOGENE’s NGS Panel designed to diagnose mitochondrial diseases focusing on the mitochondrial and nuclear genes maintaining the energy production processes in the cell
- CentoMito™ Genome – mtDNA
- CentoMito™ Comprehensive – mtDNA + nuclear DNA
Dr. Zafer Yüksel joined CENTOGENE in May 2016. He studied medicine and graduated at the […]