Angelman Syndrome (UBE3A) sequencing

Disorder Angelman syndrome
Gene Name UBE3A
Clinical info Angelman syndrome is characterized by severe motor and intellectual disability, absence of speech, ataxia and a characteristic open-mouthed face. Other features such as hypotonia, epilepsy and excessive laughter help in the diagnosis of the condition. Mutations in the ubiquitin-protein ligase E3A gene (UBE3A) located on chromosome 15 are known to be associated with a subset of Angelman syndrome cases. UBE3A is specifically imprinted in the brain where it is only expressed from the maternal allele. In individuals that retain the clinical diagnosis of Angelman syndrome following normal methylation studies, UBE3A sequencing studies should be given strong consideration.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for prenatal diagnosis.
Associated Tests Prader-Willi/Angelman methylation studies, FISH for Angelman syndrome, UBE3A is also part of the Rett/Angelman 2nd tier sequencing panel
Detection UBE3A mutations account for approximately 11% of patients with Angelman syndrome.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81406

Known mutation: 81403

Deletion/Duplication analysis: 81229
Cost

$1800 for sequencing

$350 for known mutation

$700 for deletion/duplciation analysis

$1000 for prenatal known mutation analysis

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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