Hyperammonaemia is characterized by elevated blood ammonia concentrations and may result in encephalopathy, seizures, developmental impairment, or life-threatening metabolic decompensation. It may arise from primary urea cycle defects or secondary impairment of ammonia metabolism caused by other inherited metabolic disorders.

This panel includes genes associated with the major inherited causes of hyperammonaemia, including urea cycle disorders, organic acidemias, fatty acid oxidation disorders, mitochondrial diseases, and other metabolic conditions that may impair ammonia detoxification.

This panel is recommended for patients with unexplained hyperammonaemia, metabolic encephalopathy, recurrent vomiting, episodic metabolic decompensation, or other clinical or biochemical findings suggestive of an inherited hyperammonaemic disorder.