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Molecular assay reagents intended to identify deletions and duplications in genes associated with Rett syndrome and atypical Rett syndrome, neurodevelopmental disorders that are most frequently diagnosed in girls, and are associated with a variety of symptoms (e.g., progressive loss of hand movements, progressive deficits in communication) that begin to appear at 6 to 12 months of age. Genetic variants at multiple loci have been associated with Rett syndrome and atypical Rett syndrome. These reagents are intended to detect deletions and duplications in multiple Rett syndrome- and atypical Rett syndrome-associated loci simultaneously.
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