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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 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
Code
Test Name
Turnaround
Genes
4544
Fragile X-associated Disorders
7-14 days
1 Gene
Fragile X-associated Disorders
1 Gene
FMR1
Letter of Medical Necessity
Fragile X Syndrome
(EN)
Test Requisition Form
Neurology
(EN)
Consent
Comprehensive Patient Consent
(EN) (ES)
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.