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Laboratory Test Reference Guide

Laboratory 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

Specimen Collection

Adult Specimen

4 ml EDTA (Purple) Whole blood. Do not centrifuge or freeze.

Paediatric Specimen

4 ml EDTA (Purple) Whole blood. Do not centrifuge or freeze.

Sample Delivery to Lab

Ambient on day of collection. Refrigerate overnight or weekend then send ambient.

Test Information

Department

Sendaway - Cytogenetics

Additional Information

Minimum Volume

4 ml EDTA. Paediatric 1 ml EDTA

Electronic Information

Registration Code

PMP22P

HL7Mapping Code

$PMP22