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GTR Home > Tests > Angelman syndrome UBE3A gene

Overview

Test name

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Angelman syndrome UBE3A gene

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Screening

Condition

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Click Indication tab for more information.

How to order

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Billing information and lab requisition signed by patient or guardian must be included with the sample. When ordering confirmation testing for known familial mutation provide a copy of the lab report for the affected family member(s)
Order URL Help: https://genetics.ouhsc.edu/forms/single%20gene%20seq22.pdf

Specimen source

Buccal swab
Isolated DNA
Peripheral (whole) blood

Methodology

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Cytogenetics
MFISH-metaphase
G-banding
  • FISH hybridization process
Molecular Genetics
MMethylation analysis
Methylation-specific PCR
  • Qiagen QIAcube
  • Roche LightCycler 480
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Not provided

Clinical validity

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Not provided

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.