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GTR Home > Tests > Fragile X Mutation


Test order codeHelp: Fragile X Mutation

Test name


Fragile X Mutation

Purpose of the test


This is a clinical test intended for Help: Risk Assessment, Diagnosis, Screening



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Click Indication tab for more information.

How to order


Call Regional Pathology Services at 800-334-0459 to set up a new account.
Order URL Help: http://www.reglab.org/testing_moleculardiagnostic.cfm

Specimen source

Isolated DNA
Peripheral (whole) blood
Buccal swab


Molecular Genetics
TTargeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
  • Applied Biosystems 3500 capillary electrophoresis instrument

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Not provided

Clinical validity


Not provided

Practice guidelines

  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Genetic Testing ACT Sheet, Fragile X [FraX] Syndrome, 2012
  • EuroGenetest, 2011
    Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

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