Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Acquisition of Saliva Samples for Validation as a Specimen Type in the Esoterix Genetic Laboratories Fragile X Assay

Conditions
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Fragile X Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Subject has previously been identified through molecular testing at Esoterix Genetic Laboratories as a Fragile X intermediate, premutation (carrier) or full mutation (affected). In the opinion of the subject's physician, the subject is medically stable and able to provide the required quantity of saliva. If Subject is at least 18 years of age: Subject must be willing to give written informed consent Subject must be willing to comply with the collection procedure If Subject is under 18 years of age, the legally authorized representative must give written informed consent and agree to comply with study procedures. Exclusion Criteria: Subject has been determined to be an individual with a normal FMR1 gene. Subject has a known medical condition that would cause risk to the donor or, if relevant, the fetus as a result of saliva collection.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Fragile X full mutation (affected)<br>Individual whose previous blood specimen was tested at Esoterix Genetic Laboratories and molecular analysis for fragile X revealed >200 CGG repeats with abnormal methylation pattern; interpretation is full mutation for fragile X syndrome | |
| Fragile X premutation (carriers)<br>Individual whose previous blood specimen was tested at Esoterix Genetic Laboratories and molecular analysis for fragile X revealed 55-200 CGG repeats with normal methylation pattern; interpretation is premutation carrier of fragile X syndrome | |
| Fragile X intermediate<br>Individual whose previous blood specimen was tested at Esoterix Genetic Laboratories and fragile X molecular analysis revealed 45-54 CGG repeats; interpretation is intermediate, not a carrier of a fragile X expansion mutation | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Fragile X syndrome, Fragile X full mutation, Fragile X premutation, Fragile X intermediate, CGG repeat length