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. 2014 Nov;3(4):101–109. doi: 10.5582/irdr.2014.01029

Table 1. Guidelines to recommend and offer FXS genetic testing.

Recommend Genetic Testing Offer Genetics Testing
Women
  • Premature ovarian insufficiency

  • Women who request fragile X prenatal carrier screening

  • Family history of POI and mood/anxiety disorder

  • Family history fibromyalgia and mood/anxiety disorder

  • Prenatal testing by amniocentesis or CVS for known PMC

All Adults
  • Intellectual Disability (ID)

  • Autism Spectrum Disorder (ASD)

  • Family history of ID or ASD

  • Family history of FXS

  • Unexplained late onset tremor and ataxia

  • Late onset dementia associated other premutation disorders

  • Family history of undiagnosed dementia or parkinsonism associated other premutation disorders

  • “MCP sign” or white matter lesions in the cerebral white matter on MRI