Implementation of a new, inexpensive and high-throughput Matrix Assisted Laser Desorption / Ionization _ Time Of Flight Mass Spectrometry test for superior detection of Fragile X Syndrome in targeted diagnostics and newborn population screening.

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Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment intervention.