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Children's Hospital of Pittsburgh

Testing for Fragile X Syndrome

Fragile X DNA Testing: A Guide for Physicians and Families

Fragile X doctor testingThe Fragile X DNA test has revolutionized Fragile X Syndrome diagnosis and accompanying genetic counseling. It has been available since 1991 and provides definitive diagnosis of Fragile X Syndrome and extremely accurate carrier detection. Reliable for people of any age, the test also can be performed prenatally. It has superseded the Fragile X cytogenetic test due to its greater reliability and accuracy in diagnosis and its ability to identify unaffected carriers.

This article discusses:

  • Indications for testing
  • Arrangements to make before testing
  • Collecting and shipping the sample
  • The Fragile X mutation and the concept of the test
  • A glimpse into the laboratory
  • The meaning of results
  • The importance of genetic counseling
  • The benefits of Fragile X testing

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Testing for Fragile X Syndrome: National Fragile X Foundation Guidelines

Until 1991, the only laboratory test for Fragile X syndrome was a chromosome test. A DNA test, the Fragile X mental retardation (FMR-1) gene test, was introduced in 1991. This test is the most accurate one (99+ percent) for detecting Fragile X Syndrome. The chromosome test is still available through most labs and is used for a variety of diagnostic purposes. In some cases, your physician may want to have both the DNA test and the chromosome test performed.

This article discusses:

  • Paying for the test
  • Locations of and contact information for testing laboratories

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Guidelines of Care in Fragile X Syndrome

Fragile X Syndrome (FXS) is the most common inherited cause of mental retardation that is known. It causes a spectrum of developmental and behavioral problems, which range from mild anxiety or social interaction difficulties in individuals with normal intellectual functioning to more severe behavioral problems and cognitive deficits, including all levels of mental retardation. Connective tissue problems also are associated with FXS and lead to some of the medical complications. Guidelines for care involve the work of multiple professionals.

This article is a guide for the evaluation and treatment for males and females affected by FXS at all developmental levels:

  • Prenatal
  • Infancy
  • Toddler and preschool
  • School age
  • Early adolescence
  • Late adolescence and adulthood

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