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GTR Home > Tests > Fragile X syndrome

Overview

Test name

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Fragile X syndrome (FMR1)

Purpose of the test

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

Condition

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How to order

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4 ml EDTA whole blood, shipped at room temperature
Order URL Help: https://apps.sbgh.mb.ca/labmanual/test/view?seedId=1791

Specimen source

Amniocytes
Amniotic fluid
Peripheral (whole) blood

Methodology

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Molecular Genetics
TTargeted variant analysis
Trinucleotide repeat by PCR or Southern Blot

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing

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.