GTR Home > Tests > Fragile X Syndrome

Overview

Test order codeHelp: 1480

Test name

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Fragile X Syndrome

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: http://www.knightdxlabs.com/home/test-details?id=Fragile+X+Syndrome

Test services

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  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • EMQN, 2015
    EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
  • ACMG, 2013
    ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
  • ACMG, 2008
    Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines
  • ACMG, 2008
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
  • ACMG, 2005
    Fragile X syndrome: Diagnostic and carrier testing
  • ACMG, 2001
    Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics
  • 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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