ANGELMAN SYNDROME

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, microcephaly, ataxia, jerky limb movements such as hand flapping, hyperactivity, seizures, absence of speech, frequent smiling and outbursts of laughter, and unusual facial features, characterized by a large mouth and jaw, an open-mouthed expression, with a great propensity for protruding the tongue.

Angelman syndrome is commonly caused by the loss of function of a gene called UBE3A. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are active in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother is active. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain.

This assay employs DNA methylation analysis of the Angelman syndrome critical region and detects abnormalities in the parent-specific DNA methylation imprint in approximately 80% of individuals with Angelman syndrome (AS). It detects methylation abnormalities due to a deletion, uniparental disomy, or an imprinting defect and will also differentiate PWS from AS, when due to a deletion.

CPT Code: 81331

Specimen Requirements: 2-5 mL Blood- EDTA tube (Lavender Top)

For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.

Turn-around-time: 21 days

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