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Laboratory Test Reference Guide

Laboratory Information

Test Name

SGCE Mutation Analysis

Synonyms

Myoclonus Dystonia
Sarcoglycan epsilon
DYT11

Specimen Collection

Pre Testing Requirements

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

2. Predictive/carrier testing through Genetic Services only.

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

4 ml EDTA. Paediatric 1 ml EDTA

Electronic Information

Registration Code

SGCEP

HL7Mapping Code

$SGCE