GTR Home > Tests > X-Linked Mental Retardation

Overview

Test order codeHelp: 154

Test name

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X-Linked Mental Retardation

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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4 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

113 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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Not provided

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, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • Link text is missing.
    Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
  • 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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