Fragile X Syndrome Clinical Trial
Official title:
Acquisition of Saliva Samples for Validation as a Specimen Type in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
Saliva samples will be prospectively collected from subjects who have previously been tested
by Esoterix Genetic Laboratories, LLC using blood specimens and diagnosed as fragile X
intermediates, premutations (carriers) or full mutations (affected). Results from fragile X
testing with saliva will be compared to results from the blood sample that was previously
submitted to Esoterix Genetic Laboratories for testing.
Data from this study will be used for regulatory submissions.
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Observational Model: Cohort, Time Perspective: Prospective
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