GTR Home > Tests > FRAXE-Related Intellectual Disability

Overview

Test order codeHelp: 3020

Test name

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FRAXE-Related Intellectual Disability

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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1condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Microarray
MMethylation analysis
Methylation-specific PCR
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what tested

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

Genes and variants

Clinical validity

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CCG expansion mutation in the FMR2 gene have been associated with 99% of clinically affected FRAXE patients.

Citations

Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: http://ambrygen.com/forms

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 3020
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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