PMP22 gene dup/del analysis
Test Information
Test Name
PMP22 gene dup/del analysis
Synonyms
Charcot-Marie-Tooth, CMT1A, Hereditary Neuropathy with liability to Pressure Palsies, HNPP, Hereditary Motor and Sensory neuropathies
Preferred Specimen
EDTA (Whole blood)
Testing Location
Referral
Turn Around Time
4 weeks
Collection Information
Preparation
- Neurology referral required
Processing Information
Registration Code
PMP
Notes
- DO NOT centrifuge; whole blood required
- DO NOT share sample; dedicated tube required
- DO NOT freeze
Alternative Specimen
Plain tubes
Methodology
Interpretations
View InterpretationsContact Information
laura.yau@pathlab.co.nz
External Referral Information
Referral Location
Canterbury Health Laboratory (via WHL)
Send Away Transport
Specimen delivery Ambient on day of collection. Refrigerate overnight or weekend then send ambient
External Lab Website