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GTR Home > Tests > Fragile X-associated premature ovarian insufficiency

Overview

Test name

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Fragile X-associated premature ovarian insufficiency

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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Not provided

Methodology

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

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Not provided

Clinical validity

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Not provided

Practice guidelines

  • ACMG, 2021
    Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
  • EMQN, 2015
    EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
  • NSGC, 2012
    Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.

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