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Analytical and Clinical Validation of a PCR/CE Assay System for the Diagnosis of Fragile X Syndrome and Carrier Screening
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"Analytical and Clinical Validation of a PCR/CE Assay System for the Diagnosis of Fragile X Syndrome and Carrier Screening"

Fragile X syndrome (FXS) is a leading genetic cause of mental and cognitive disabilities and is characterized by an expanded cytosine-guanine-guanine (CGG) nucleotide repeat (≥200 CGG) in the FMR1 gene.

In this poster, we describe the analytical and clinical validation of the AmplideX® Fragile X Dx & Carrier Screen Kit, a simple and streamlined assay to accurately detect and quantify the number of CGG repeats in the FMR1 gene across all clinical categories for both diagnostic and screening applications.  Furthermore, the assay is able to deliver results in a fraction of the time and effort compared to alternative testing approaches, including Southern blot.


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