Joubert and Meckel-Gruber syndromes Report

Joubert and Meckel-Gruber SyndromesJoubert and Meckel-Gruber Syndromes report is used to identify genetic variants associated with Joubert syndrome and related disorders (JSRD) and Meckel-Gruber syndrome (MKS), rare genetic disorders that affect the development of the brain and other organs. This report tests for genetic variants in genes that are important for the formation and function of a structure in the brainstem called the cerebellar vermis.More than 35 genes analyzed It is recommended if: This report is designed for individuals with a family history of JSRD or MKS or for those who have symptoms of the conditions, such as developmental delay, breathing problems, eye movement abnormalities, kidney cysts, and liver problems. Early diagnosis through genetic testing can help inform treatment and management decisions, including supportive care and monitoring for complications. It can also inform family planning decisions and provide reassurance for unaffected family members. List of