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  • Molecular assay reagents intended to identify mutations in the prosaposin (PSAP) gene, located at chromosome 10q21-q22, which encodes for a protein involved in multiple biologic functions of the nervous and reproductive systems. This genetic mutation has been identified in patients with variants of (i.e., atypical) Gaucher\'s disease and metachromatic leukodystrophy; mutations are also present in complex sphingolipidosis with fatal infantile glycogen storage disorder.
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