GTR Home > Tests > Dentatorubro-pallidoluysian atrophy

Overview

Test order codeHelp: DRPLA

Test name

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Dentatorubro-pallidoluysian atrophy (DRPLA)

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
IMicrosatellite instability testing (MSI)
Trinucleotide repeat by PCR or Southern Blot
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

1 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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see order form
Order URL Help: http://www.ruhr-uni-bochum.de/mhg/diag_anforderungsscheine.php

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.

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.

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