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GTR Home > Tests > Prader Willi/Angelman Mol Analysis

Overview

Test order codeHelp: PWAS

Test name

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Prader Willi/Angelman Mol Analysis (PWAS)

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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https://www.mayocliniclabs.com/test-catalog/Specimen/35535
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Cord blood
Peripheral (whole) blood

Methodology

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Molecular Genetics
MMethylation analysis
Methylation-Sensitive Multiplex Ligation-Dependent Probe Amplification (MLPA)

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. - PubMed ID: 11694676
  • Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. - PubMed ID: 16106041
  • Angelman syndrome 2005: updated consensus for diagnostic criteria. - PubMed ID: 16470747
  • Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. - PubMed ID: 16690734
  • Prader-Willi syndrome and Angelman syndrome. - PubMed ID: 20803659

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: PWAS

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