GTR Home > Tests > Alport Syndrome (COL4A5) Del/Dup

Overview

Test order codeHelp: 2002394

Test name

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Alport Syndrome (COL4A5) Del/Dup

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

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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Order URL Help: http://www.aruplab.com/genetics/ordering

Practice guidelines

  • ACMG, 2002
    Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss
  • EuroGentest, 2011
    Clinical utility gene card for: Alport syndrome.

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