Use

The OTC Deletion/Duplication Analysis is designed to identify pathogenic deletions and duplications in the OTC gene associated with ornithine transcarbamylase deficiency (OTC). OTC is an X-linked inherited disorder causing toxic ammonia accumulation, which can severely damage the nervous system. Clinical manifestations vary, with neonates experiencing acute symptoms leading to possible brain damage or liver failure. Symptoms in males typically include low muscle tone and feeding difficulties, while females may show variable symptoms. Early diagnosis and management are critical to prevent severe outcomes. Lifelong dietary management and sometimes liver transplantation are required, especially in the neonatal form of the disorder. Understanding the genetic basis of OTC is essential for effective treatment planning.