Fragile X syndrome: diagnostic and carrier testing

Genet Med. 2005 Oct;7(8):584-7. doi: 10.1097/01.gim.0000182468.22666.dd.


This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.

MeSH terms

  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / genetics
  • Genetic Carrier Screening / methods*
  • Genetic Services
  • Genetic Testing / methods
  • Genetic Testing / statistics & numerical data
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Molecular Diagnostic Techniques / statistics & numerical data
  • Population Surveillance
  • Practice Guidelines as Topic / standards*