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GTR Home > Tests > Fragile X Syndrome via the FMR1 CGG Repeat Expansion

Overview

Test order codeHelp: 558

Test name

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Fragile X Syndrome via the FMR1 CGG Repeat Expansion

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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How to order

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Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL Help: https://www.preventiongenetics.com/forms.php

Specimen source

Cell culture
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
White blood cell prep

Methodology

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Molecular Genetics
MMethylation analysis
Methylation-specific PCR
IMicrosatellite instability testing (MSI)
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, Order code: 558

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.