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  • Molecular assay reagents intended to identify genetic variants associated with lysosomal storage disorders, a collection of metabolic disorders associated with deficiencies in lysosomal function, which lead to the accumulation of various metabolites normally processed in these organelles. Genetic variants at multiple loci have been associated with lysosomal storage disorders. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple lysosomal storage disorders-associated loci simultaneously.
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