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Diagnostic Expertise

How one test changed everything.

The Fragile X DNA test has been available since 1991 and provides definitive diagnosis of Fragile X syndrome and extremely accurate carrier detection. The development of this test has revolutionized the diagnosis of Fragile X syndrome, offering reliable results both before birth and at any age. Below are additional articles about this test and its implications.

Fragile X DNA Testing: A Guide for Physicians and Families

View the complete article to find out more about:

  • 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

Testing for Fragile X Syndrome: National Fragile X Foundation Guidelines

View the complete article to find out more about:

  • The difference between Fragile X intellectual disability (FMR-1) gene test and the older chromosome test, and how much each costs
  • Paying for the test
  • Locations of and contact information for testing laboratories
Last Update
April 3, 2014
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Last Update
April 3, 2014
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