Use

This test is used to confirm a suspected clinical diagnosis of several disorders within the Noonan spectrum, including Noonan syndrome, cardiofacial cutaneous syndrome, Costello syndrome, Legius syndrome, Noonan syndrome with multiple lentigines (LEOPARD syndrome), Noonan-like syndrome, and Noonan-like syndrome with loose anagen hair. These disorders are caused by pathogenic germline variants in genes involved in the Ras/mitogen-activated protein kinase (MAPK) pathway, which are involved in various physiological development processes. Symptoms vary widely but can include short stature, heart defects, developmental delays, coagulation defects, lymphatic dysplasia, and undescended testes.