Overview

Angelman syndrome (AS) is characterised by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and a unique behaviour with an overly happy demeanour that includes frequent laughing, smiling, and excitability. 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.

Category

Cost

All patients: $196.35 (Medicare rebate $196.35 bulk billed)

Non-Medicare patients: $230.96

Reporting time

Up to 6 weeks

Contacts

David Francis

Phone (03) 8341 6258 (Lab)

Phone (03) 8341 6282 (Direct)

Specimen Requirements

EDTA blood: Adults/Children: 5 ml

Saliva (please contact laboratory for saliva kits)

Notes

The AS methylation analysis detects approximately 80% of AS cases. Positive test results may need additional testing of the proband and parents (microarray) to determine etiology and recurrence risk. Please note: the AS methylation DNA test cannot be performed at the same time as a microarray without additonal costs. Please contact the Lab for more information.

Genes tested