Repeat Expansion Analysis
Repeat Expansion Analysis is a specialized genetic test used to detect abnormal expansions of repetitive DNA sequences in specific genes. These expansions can disrupt normal gene function and gene expression. They are responsible for several inherited neurological disorders such as Huntington’s disease, Fragile X syndrome, Myotonic dystrophy, and Spinocerebellar ataxia. Identifying these expansions helps support accurate diagnosis and guide clinical management.
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