It is recommended that the following specific indications for testing include:
- Clinical symptoms that suggest Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), or Fragile X-associated primary ovarian insufficiency (FXPOI).
- A family history of FXS, FXTAS, intellectual or learning disabilities or autism of unknown cause, or infertility.
- Family or personal history of a Fragile X genetics and inheritance (i.e., carrier).
- Any male or female with intellectual disabilities, developmental delay, speech and language delay, autism or learning disabilities of unknown cause.
- Any female with infertility, elevated FSH levels, premature ovarian failure, primary ovarian insufficiency, or irregular menses. Learn more.
- Any male or female over 50 with features of FXTAS, including intention tremors, ataxia, memory loss, cognitive decline, or personality change, especially in combination with a positive family history of Fragile X.
- Any preconception or pregnant female who expresses interest in or requests Fragile X carrier testing.
For more information on testing, check out these resources: