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.

Please note: Fragile X testing cannot be performed on prenatal specimens.

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

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.

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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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