Fragile X-associated Disorders - Ambry Genetics

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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.

Fragile X-associated Disorders genetic test by Ambry Genetics

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.

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.

Genes analyzed

4544

Fragile X-associated Disorders

7-14 days

1 Gene

Fragile X-associated Disorders

1 Gene

FMR1

Letter of Medical Necessity

Fragile X Syndrome

Test Requisition Form

Neurology

Consent

Patient

Mutation Detection Rate

>99.9%

FMR1

can detect the CGG repeat expansion with 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.

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.