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GTR Home > Tests > Angelman Syndrome

Overview

Test order codeHelp: 2415

Test name

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Angelman Syndrome (AS)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Not provided

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
MS-MLPA
MMethylation analysis
MS-MLPA

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. - PubMed ID: 18294067

Clinical validity

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Deletion and methylation analysis of the critical region in chromosome 15 accounts for approx. 75% of alterations in Angelman syndrome.

Citations

Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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