Pathology Test Details

Item Details
Laboratory Monash Health : Genetics and Molecular Pathology - VIC
Test Name Angelman syndrome
Genes Tested UBE3A
Test Description This test is limited to patients with clinical evidence of Angelman Syndrome and examines both methylation and copy number within the affected region on 15q11-13.
Method Methylation sensitive MLPA-MS-MLPA
Test Type Single
Comment MS-MLPA will detect maternal deletions, paternal UPD and imprinting defects in 15q11-13, but will not distinguish between the latter. Exonic deletions within UBE3A will also be detected. Point mutations within UBE3A are not detected.
Test Accreditation Included In NATA Scope
Clinical Context Heritable variants, Somatic mutation
Sample Required 1 to 2 mls blood in EDTA tube or 2ug of high quality DNA
Turn Around Time 4 weeks
Medicare Rebate No Medicare rebate
Pathology Test Last Edit Date 3/07/2017 10:51:15 AM
03-Jul-2017
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25-Jan-2019
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