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  • Molecular assay reagents intended to identify stable and usually irreversible modifications (anomalies) of the normal genetic message (i.e., gene mutations) that may cause disorders in humans; genetic mutations many be de novo or inherited (familial), frequently in X-linked, autosomal dominant, or autosomal recessive form. Most mutations are the result of gene rearrangements or small changes in the number or type of bases (e.g., trinucleotide repeats). Genetic mutations are common in many hereditary disorders (e.g., cerebellar ataxia, retinitis pigmentosa); they are also associated with many types of nonhereditary diseases (e.g., lymphomas, leukemia, carcinomas).
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