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  • Molecular assay reagents intended to identify CAG repeats in the ataxin 3 (ATXN3) gene, located at chromosome 14q24.4-q32.1. Normal alleles have from 13 to 36 CAG trinucleotide repeats. A variation from the expected number of normal CAG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 68 to 79 CAG trinucleotide repeats have been associated with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease).
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