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Test Code: UBE3AS Preferred Name Angelman Syndrome - UBE3A Gene Sequencing

No
N/A
N/A
4-6 weeks
Non-medicare Item
N/A

Test Tubes

ImageSpecimen TypeSpecimen VolumeTube Type
Paediatric2 mL4x EDTA 500 uL Microtainer (Lavender Top)
Adult4 mL2x EDTA 3 mL whole blood (Lavender top)

COLLECTION NOTES

Collect EDTA whole blood.

GENERAL NOTES

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.

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