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GTR Home > Tests > Angelman Syndrome

Overview

Test order codeHelp: Angelman Syndrome

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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Samples should be submitted with the appropriate requisition form (DNA test request form, Cytogenetics test request form). Samples are received Monday through Saturday. For DNA testing blood should be collected in EDTA or ACD tubes. For cytogenetic/FISH analysis, blood should be collected in sodium heparin tubes. Cultured prenatal specimens are accepted for DNA analysis; direct fluid for cytogenetic/FISH analysis.

Specimen source

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

Methodology

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Cytogenetics
MFISH-metaphase
FISH
  • Infinium Global Diversity Array with Enhanced PGx-8
Molecular Genetics
MMethylation analysis
Methylation-specific PCR
  • BioRad CFX96
  • Applied Biosystems 3130
  • BioRad CFX96
  • SeqStudio Genetic Analyzer (Thermofisher Scientific)
  • Infinium Global Diversity Array with Enhanced PGx-8
UUniparental disomy study (UPD)
SNP Detection
  • Other
  • Infinium Global Diversity Array with Enhanced PGx-8
Trinucleotide repeat by PCR or Southern Blot
  • SeqStudio Genetic Analyzer (Thermofisher Scientific)
  • Infinium Global Diversity Array with Enhanced PGx-8

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4

Clinical validity

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The most sensitive single approach to diagnosing PWS and AS is to study methylation patterns within 15q11-q13 using molecular genetic techniques. These will detect deletions, UPD and imprinting defects by establishing either a solely maternal methylated imprint (PWS) or paternal methylated imprint (AS).

Citations
  • Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. - PubMed ID: 20459762

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Prenatal tesing
  • FISH Analysis
  • Uniparental Disomy (UPD) 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.