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Laboratory Test Reference Guide

Laboratory Information

Test Name

Myotonic dystrophy (DMPK)

Synonyms

Type 1 DMPK gene CTG expansion

Specimen Collection

Pre Testing Requirements

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

2. Predictive testing only 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

Referred Out

LAB_PLUS

Minimum Volume

4 ml EDTA. Paediatric 1 ml EDTA

Electronic Information

Registration Code

MYOTP

HL7 mapping code

$MYOT