GTR Home > Tests > DRPLA - Dentatorubral-Pallidoluysian Atrophy

Overview

Test name

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DRPLA - Dentatorubral-Pallidoluysian Atrophy

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
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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The CAG trinucleotide repeat is found in 100% of individuals with DRPLA.

Citations

Not provided

Clinical utility

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Not provided

How to order

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1. Choose the desired test from the Test Directory. 2. Obtain information on the required specimen for the specific test from the Test Information page. 3. Fill out the necessary test requisition form and any other required forms from the Forms page. 4. Provide the required Billing information or make the required payment arrangements. 5. Submit the sample according to the Specimen Handling instructions.
Order URL Help: http://www.saintfrancis.com/genetics/Pages/Test-Ordering.aspx

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • EFNS/ENS, 2014
    EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
  • EFNS, 2010
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

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