Pathology Test Details

Item Details
Laboratory Victorian Clinical Genetics Services : Reproductive Genetic Testing, Genetics & Genomics, and Biochemical Genetic Laboratories - VIC
Test Name Angelman syndrome
Genes Tested Please refer to the test description
Test Description Angelman syndrome (AS) is characterised by severe developmental delay or intellectual disability, severe speech impairment and?gait ataxia. Developmental delays are first noted at around age six months; however, the clinical features of AS do not become apparent until after age one year. Angelman syndrome has multiple causes, all affecting chromosome region 15q11.1-q11.3.
Method MLPA
Test Type single
Comment Detects 80% of Angelman syndrome cases. Positive test results may need additional testing of the proband and parents (microarray) to determine eitiology and recurrence risk. Please note: the Angleman syndrome methylation DNA test can not be performed at the same time as a microarray without additonal costs. Contact Lab for more information
Test Accreditation Included In NATA Scope
Clinical Context Heritable variants, Prenatal test
Sample Required EDTA blood: Adults/Children: 5 ml, Saliva (please contact laboratory for saliva kits)
Turn Around Time Up to 6 weeks
Medicare Rebate No Medicare rebate
Pathology Test Last Edit Date 3/07/2017 11:51:10 AM
03-Jul-2017
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