Lysosomal Storage Disorders Report

Lysosomal Storage DisordersLysosomal storage disorders is a group of rare genetic disorders that affect various organs and tissues, including the brain, bones, and connective tissues. Lysosomal storage disorders are caused by mutations in genes involved in lysosomal function and metabolism, 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 lysosomal storage disorders or individuals with symptoms of the conditions, such as developmental delay, bone abnormalities, and vision and hearing loss. 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: Fabry disease Glycogen storage disease II Krabbe disease GM1-gangliosidosi