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 Interpretations

Contact 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