Urea cycle disorder Report

Urea cycle disorderUrea cycle disorder is a group of rare genetic disorders that affect the body's ability to remove ammonia from the blood. Urea cycle disorders are caused by mutations in genes involved in the urea cycle, and this report tests for genetic variants that are known to affect these processes.More than 10 genes analyzed It is recommended if: This report is designed for individuals with a family history of urea cycle disorders or individuals with symptoms of the condition, such as lethargy, vomiting, and seizures. 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: Argininemia Argininosuccinic Aciduria Citrullinemia N-acetylglutamate synthase deficiency