21 - 28 days
UBE3A Gene Sequencing
UBE3A Sequencing Shadow
Ubiquitin Protein Ligase E3A Gene Sequencing
Autism / Intellectual Disability
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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.
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.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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….