Mayo Clinic physicians, genetic counselors, and allied health staff are in San Diego for the WORLDSymposium, which presents the latest information from basic science, translational research, and clinical trials for lysosomal diseases. If you're attending, be sure to visit us in the exhibit hall at booth #23 to discuss:
Lysosomal Storage Disorders (LSDs)
COMBINING ENZYME ACTIVITY, BIOMARKER TESTING, AND MOLECULAR ANALYSIS TO PROVIDE PHENOTYPIC AND DIAGNOSTIC INFORMATIONMayo Clinic’s Biochemical Genetics Laboratory performs more than 40 qualitative and quantitative laboratory tests to measure a large and growing number of analytes related to LSDs. Enzyme analysis is considered the gold standard for diagnosis of LSDs and can provide important phenotypic information on disease severity. In addition, biomarker and other analyte testing can be used for diagnosis and/or disease management.
ADVANCING A NEW STANDARD OF CARE FOR NEWBORN SCREENINGMayo Medical Laboratories offers two screening assays to detect lysosomal storage and peroxisomal disorders in newborns. Both screening assays use tandem mass spectrometry to measure the activity of six enzymes each associated with a lysosomal storage disorder.