Myotonic Dystrophy
Test Information
Test Name
Myotonic Dystrophy
Synonyms
DMPK; Type 1 DMPK gene CTG expansion; DM1 - Steinert disease, CNBP, DM2 - Proximal Myotonic Myopathy (PROMM)
Preferred Specimen
EDTA (Whole blood)
Testing Location
Referral
Turn Around Time
6 weeks
Collection Information
Preparation
- Diagnostic testing requires referral through Neurology; Paediatrics or Genetic Servcies
- Predictive testing only through Genetic Services
Processing Information
Registration Code
MYOD
Notes
- DO NOT centrifuge; whole blood required
- DO NOT share sample; dedicated tube required
Methodology
Interpretations
View Interpretations
External Referral Information
Referral Location
LabPlus (via WHL)
Send Away Transport
Specimen delivery Ambient on day of collection. Refrigerate overnight or weekend then send ambient
External Lab Website