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 InterpretationsContact Information
laura.yau@pathlab.co.nz
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