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GTR Home > Tests > Fragile X Mutation

Overview

Test order codeHelp: Fragile X Mutation

Test name

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Fragile X Mutation

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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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

Methodology

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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

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Not provided

Clinical validity

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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.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.