Use

This test is useful for the follow-up of abnormal biochemical results suggestive of congenital lactic acidosis. It helps in establishing a molecular diagnosis for patients with congenital lactic acidosis and identifies variants within genes known to be associated with the condition, which allows for predictive testing of at-risk family members. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling.