Part of this test is a scheduled test, the remaining is a non-schedule test. Please advise the patient that this test is not covered by Medicare and they will have out-of-pocket expenses. UBE3AM - Schedule test (not out-of-pocket) UBE3AS - Non-schedule ($600.00)
Angelman syndrome (AS; OMIM #105830) is characterised by severe developmental delay or mental retardation, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behaviour with an inappropriately happy demeanour.
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). This test to performed by MLPA.
Approximately 10% of individuals with AS have an identifiable UBE3A mutation.