Fragile X-associated Disorders

Fragile X-associated disorders (FXD) is a group of genetic conditions caused by changes in the FMR1 gene and include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). FXD can affect people in a variety of ways, causing intellectual disabilities, autism spectrum disorders, behavioral changes, imbalance, tremor, memory problems, and decreased ovarian function.


Quick Reference
Test Code 4544
Turnaround Time (TAT) 7-14 days
Number of Genes 1
Specimen Requirements Click here

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Mutation Detection Rate

FMR1 can detect the CGG repeat expansion with >99.9% sensitivity, when it is present (analytic sensitivity). 

Test Description

Fragile X DNA Analysis includes FMR1 CGG repeat detection by a triple primed polymerase chain reaction (PCR) using a standardized kit to selectively amplify the regions of gDNA corresponding to the FMR1 promoter region followed by capillary electrophoresis for fragment size analysis. Methylation status using methylation sensitive PCR analysis (mPCR) is performed as a reflex test if PCR indicates a full mutation or a premutation (>53 repeats) allele.

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