Laboratory Test Reference Guide

Laboratory Information

Test Name

Angelman syndrome

Synonyms

AS Methylation analysis

Specimen Collection

Pre Testing Requirements

1. Diagnostic testing requires referral through Paediatrics, Neurology or Genetic Services.

2. Familial testing requires referral through Genetic Services

Adult Specimen

4 ml EDTA (Purple) Whole blood. Do not centrifuge or freeze.

Paediatric Specimen

4 ml EDTA (Purple) Whole blood. Do not centrifuge or freeze.

Sample Delivery to Lab

Ambient on day of collection. Refrigerate overnight or weekend then send ambient

Test Information

Department

Sendaway - Cytogenetics

Additional Information

Minimum Volume

4ml EDTA (Purple). Paediatric 0.5ml EDTA (Purple)

Electronic Information

Registration Code

ASP

HL7 mapping code

$AS