Laboratory Test Reference Guide

Laboratory Information

Test Name

SGCE Mutation Analysis

Synonyms

Myoclonus Dystonia
Sarcoglycan epsilon
DYT11

Specimen Collection

Adult Specimen

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

Pre Testing Requirements

1. Requires clear diagnostic referral through Neurology or Genetic Services.

2. Predictive/carrier testing through Genetic Services only.

Paediatric Specimen

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

Test Information

Department

Sendaway - Cytogenetics

Additional Information

Minimum Volume

4 ml EDTA. Paediatric 1 ml EDTA

Electronic Information

Registration Code

SGCEP

HL7 mapping code

$SGCE