GTR Home > Tests > FMR1-Related Disorders

Overview

Test name

Help

FMR1-Related Disorders

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis

Condition

Help

3 conditions tested. Click Indication tab for more information.

Methodology

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

Summary of what tested

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

Genes and variants

Clinical validity

Help

More than 99% of individuals with fragile X syndrome have a loss-of-function mutation in FMR1 caused by an increased number of CGG trinucleotide repeats (typically >200) accompanied by aberrant methylation of FMR1.

Citations

Not provided

Clinical utility

Help

Not provided

How to order

Help

Order URL Help: http://www.healthcare.uiowa.edu/uidl/mo_path/mo_path_instructions.html

Test services

Help
  • Custom mutation-specific/Carrier testing

Clinical resources

Practice guidelines

  • 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.

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.

Write to the Help Desk