Test Overview
Test Methodology

The coding exons and associated, adjacent consensus splice sites of the UBE3A gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

Analysis for the presence of UBE3A mutations in patients with a phenotype consistent with Angelman Syndrome. The diagnosis of AS rests on a combination of clinical features and molecular genetic testing and/or cytogenetic analysis. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 78% of individuals with AS, including those with a deletion, uniparental disomy (UPD), or an imprinting defect (ID). Less than 1% of individuals with AS have a cytogenetically visible chromosome rearrangement (translocation or inversion). UBE3A sequence analysis detects mutations in approximately 11% of individuals with AS. Methylation analysis and UBE3A sequence analysis identifies genetic alterations in approximately 90% of individuals with AS. The remaining 10% of individuals with classic phenotypic features of AS have the disorder as a result of an as-yet unidentified genetic mechanism.

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

This assay will not detect large deletions in the UBE3A gene or intronic mutations outside the region sequenced in the UBE3A gene.

Test Details
Days Set Up
Monday - Friday
Analytic Time

21 - 28 days

Soft Order Code
UBE3A
MiChart Code
UBE3A Gene Sequencing
Synonyms
  • UBE3AS
  • UBE3A Gene Sequencing
  • UBE3ASS
  • UBE3A Sequencing Shadow
  • Ubiquitin Protein Ligase E3A Gene Sequencing
  • Angelman Syndrome
  • Autism / Intellectual Disability
Laboratory
MMGL
Section
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood
Additional Information

By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing
CPT Code
81406
Fee Code
DA039
Pro Fee CPT
G0452-26
Prior Authorization
The Prior Authorization form is required for this test. Click here to download the PDF.
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