Mitochondrial Disorders

A common factor among mitochondrial diseases is that the mitochondria are unable to completely burn food and oxygen to generate energy, which is essential for normal cell function. Mitochondria are responsible for creating more than 90% of the energy needed by the body. When they fail, not enough energy is generated within the cell and cell injury and death can follow. If this process is systemic, then whole bodily systems begin to fail. Mitochondrial disorders are often hereditary conditions and therefore, these disorders primarily affect children, but adult onset is becoming more common. Symptoms of mitochondrial disorders include poor growth, developmental delays, and muscle weakness.

As hereditary conditions, genetic testing is available to identify the genetic cause of the disorder. Commonly ordered mitochondrial disorder tests offered by the Northwell Health Genomics Alliance are listed below.

Commonly Ordered Tests

• GD615 Combined Mito Genome Plus Mito Nuclear Gene Panel
• GD573 Comprehensive Mitochondrial Nuclear Panel
• GD453 Testing for 1- 3 mtDNA Mutations w/Heteroplasmy Level
• GD394 Alpers-Huttenlocher Syndrome, POLG Sequencing
• GD554 Mitochondrial Disorders / Sequence Analysis and Deletion Testing of the Mitochondrial Genome

See All Tests for Mitochondrial Disorders