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

Contact 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