Laboratory Test Reference Guide

Laboratory Information

Test Name

Myotonic dystrophy (DMPK)

Synonyms

Type 1 DMPK gene CTG expansion

Specimen Collection

Adult Specimen

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

Pre Testing Requirements

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

2. Predictive testing only through Genetic Services.

Paediatric Specimen

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

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