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  • Molecular assay reagents intended to identify gene variants associated with chromosome breakage disorders, a collection of genetic diseases (e.g., ataxia telangiectasia; Bloom syndrome; Nijmegen breakage syndrome) that are characterized by chromosome instability. Genetic variants at multiple loci have been associated with chromosome breakage disorders. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple chromosome breakage disorder-associated loci simultaneously.
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