Ornithine Transcarbamylase Deficiency via the OTC Gene

Use

This test is intended for individuals with relevant clinical features or a suspected diagnosis of ornithine transcarbamylase deficiency. It is also designed for individuals with an abnormal newborn screen or biochemical results suggestive of OTC deficiency, which may include low citrulline and high glutamine levels, elevated urine orotic acid concentration, hyperammonemia, or unexpectedly low blood urea nitrogen (BUN). Additionally, reproductive partners of individuals with a known pathogenic variant in the OTC gene may benefit from this testing.