• Recommended: A key first-line genetic test on the path to a diagnosis
  • Informative: Results fall into one of four clear categories for definitive answers
  • Affordable: With Progenity’s Peace of Mind program for patients

About Fragile X Syndrome

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorders. About one-third of all children with FXS also present with autism spectrum disorders,1 and 1 in 30–50 boys and 1 in 50–100 girls with intellectual disability or developmental delay of uncertain cause will have FXS.2

The American Academy of Pediatrics (AAP) recommends that all children with intellectual disability, global developmental delays or autism be tested for FXS.2 Early physical recognition of FXS is difficult, thus any child exhibiting symptoms that could be consistent with FXS should be strongly considered for testing.3

Receiving a molecular diagnosis of FXS allows the managing clinician to:

  • Concentrate on appropriate management strategies
  • Perform a formal behavior assessment and subsequent management
  • Prescribe appropriate medication therapies
  • Access supportive therapies like speech and occupational therapies
  • Offer molecular testing to at-risk family members
  • Properly counsel the family on future family planning options

Indications For Testing

  • Intellectual disability
  • Developmental delay
  • Autism spectrum disorders
  • Learning disabilities
  • Persistent deficits in social interaction
  • Restricted, repetitive behavior patterns
  • Behavioral issues such as hyperactivity

Interpreting Fragile X Results

FXS is the result of an increase in CGG repeats in the FMR1 gene located on the X chromosome. A definitive diagnosis of FXS is made through genetic testing to determine the number of CGG repeats present in the FMR1 gene. Test results fall into one of four categories:

Progenity’s Fragile X Analysis

1. Clifford S, et al. Autism spectrum phenotype in males and females with fragile X full mutation and permutation. J Autism Dev Disorder. 2007 Apr;37(4):738-47.
2. Moeschler JB, et al. Comprehensive evaluation of the child with intellectual disability of global developmental delays. Pediatrics 2014;134:e903-e918.
3. Hersh JH, et al. Health supervision for children with fragile X syndrome. Pediatrics 2011;127;994.
This laboratory-developed test was developed and its performance characteristics validated by Progenity, Inc. under federal CLIA laboratory guidelines. The test has not been cleared or approved by the U.S. Food and Drug Administration. This test is used for clinical purposes. It should not be regarded as investigational or for research use only.