Pseudonyms
Peripheral myelin protein 22 (PMP22) gene duplication, Genome-wide chromosome microarray (molecular karyotype), CMT
Collection Requirements
Routine collection. Request slip must be signed by collector.
Tube Colour
9.0mL EDTA Lavender
Test image(s)
Requires own tube?
Yes
Reference Interval
Refer to report
Availability
Contact Molecular Pathology, RMH for turnaround time
Reference Laboratory
To Be Approved By: Molecular Pathology Royal Melbourne Hospital
Fee
Contact Molecular Pathology, RMH for a quotation
Notes
Referrals accepted ONLY from Geneticists or Neurologists.
Patient consent form required. Payment approval required.
For URGENT testing, please notify Molecular Pathology, RMH on 03 9342 7991 or molpath@mh.org.au
Analysis of the PMP22 gene for constitutional genetic abnormalities causing peripheral neuropathy, either as:
1. diagnostic studies of an affected person; or
2. studies of a relative for an abnormality previously identified in an affected person
Test code: RGTST1