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GTR Home > Tests > Fragile X Tremor/Ataxia Syndrome

Overview

Test order codeHelp: FRX

Test name

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Fragile X Tremor/Ataxia Syndrome

Purpose of the test

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

Condition

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How to order

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Order URL Help: https://www.testmenu.com/UCSFClinLab/Tests/811935

Specimen source

Cell culture
Peripheral (whole) blood

Methodology

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Molecular Genetics
MMethylation analysis
Methylation Sensitive Chemiluminescent Southern Blot
TTargeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
  • Applied Biosystems 3730 capillary sequencing instrument

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

Testing strategy

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For all genetic testing, the patient should be informed of the test limitations and benefits. Adequate genetic counseling should be offered, and written informed consent should be obtained though it is not required to be submitted with the sample. 000 For all genetic testing, the patient should be informed of the test limitations and benefits. Adequate genetic counseling should be offered, and written informed consent should be obtained though it is not required to be submitted with the sample.

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.