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GTR Home > Tests > Angelman syndrome

Overview

Test name

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Angelman syndrome

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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4 mL EDTA whole blood, shipped at room temperature
Order URL Help: https://apps.sbgh.mb.ca/labmanual/test/view?seedId=1785

Specimen source

Amniocytes
Amniotic fluid
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • None/not applicable
MMethylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Other
  • None/not applicable
UUniparental disomy study (UPD)
PCR of microsatellite markers located on chromosome 15
  • None/not applicable

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Custom Prenatal Testing

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.