Lysosomal metabolism and storage disorders

Comprehensive testing for rare, serious, and complex metabolic disorders

Lysosomal metabolism and storage disorders are a diverse group of conditions caused by genetic variation in genes that regulate lysosomal enzyme synthesis, transport, and secretion. Enzymatic deficiencies that occur because of the genetic abnormality result in the toxic accumulation of undegraded substrates, such as fats and sugars, and cause disease in the organs affected by the accumulation.

Because individuals affected by lysosomal disorders (LDs) have an increased risk of mortality and morbidity, early diagnosis is critical. Identification of the specific genetic variation can facilitate disease management and selection of treatment, such as enzyme-replacement therapy, which is available for a growing number of LDs. When utilized before organ damage, treatment has the potential to prevent or delay damage, improve quality of life, and lengthen the patient’s life.

Our comprehensive menu of evaluations to diagnose LDs includes biochemical and molecular testing for all major classifications of these conditions. In addition, molecular genetic testing for the LDs presented here, and many others not included in preexisting panels, is available through our custom gene ordering tool.