Genetic Testing For Mitochondrial Disorders

Mitochondrial diseases are multisystem diseases that arise from dysfunction in the mitochondrial protein complexes involved in oxidative metabolism. There are many related but distinct syndromes and some patients have overlapping syndromes. As a result, these disorders can be difficult to diagnose. Genetic testing has the potential to improve the accuracy of diagnosis for mitochondrial diseases. Genetic testing also has the potential to determine future risk of disease in individuals who have a close relative with a pathogenic variant. Diagnostic genetic testing for mitochondrial disorders and carrier testing of known familial variants associated with mitochondrial disorders is addressed in this review. Carrier screening for mitochondrial disorders associated with autosomal recessive inheritance of nuclear DNA variants is addressed in evidence review 11.003.048.