Nuclear Mitochondrial Genes Report

Nuclear Mitochondrial Genes

Nuclear Mitochondrial Genes report is used to identify nuclear genetic variants associated with mitochondrial diseases, a group of rare genetic disorders that affect the energy-producing organelles in cells. Mitochondrial diseases can affect any organ or tissue in the body and can cause a wide range of symptoms, including muscle weakness, developmental delay and cardiomyopathies. Mitochondrial diseases caused by nuclear gene mutations can impair mitochondrial function, metabolism and stability.

More than 90 genes analyzed

It is recommended if:

This report is designed for individuals with a family history of mitochondrial diseases caused by nuclear mutations or individuals with symptoms of the conditions, such as muscle weakness, developmental delay and cardiomyopathies. Genetic testing can confirm a diagnosis, provide information on disease severity and progression and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members.

List of main conditions:

• Autosomal dominant optic atrophy
• Alpers–Huttenlocher Syndrome
• Leigh syndrome