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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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Currently, samples are only accepted from residents of Canada. Please use the General Requisition form on our website.
Order URL Help: http://genebc.ca/forms_new.htm

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Chorionic villi
Cord blood
Fetal blood
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)

Methodology

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Molecular Genetics
MMethylation analysis
Methylation-specific PCR

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Methylation analysis detects 78% of individuals with Angelman syndrome. This test identifies individuals with AS due to abnormal imprinting, whether by maternal deletion, paternal UPD, or imprinting defect. When an individual is positive by this assay, follow-up studies (see test algorithm on www.genebc.ca) are required to ascertain the underlying mechanism.

Citations

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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.