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Hereditary Neuropathy with Liability to Pressure Palsies
Also known as : [HNPP]

DNA/RNA
Test performed by: LabPLUS Diagnostic Genetics

Referral Requirements

Diagnostic referrals through specialist services.

Important Note:

Familial testing only through Neurology or Genetic Services.

Contacts:

Genetic Health Service NZ can be contacted on 0800 476 123.

Neurology can be contacted on (09) 307 4949 ext. 25662.

Specimen Collection
4 mL Paediatric EDTA Blood (Preferred)
4 mL Adult EDTA Blood
Note:

For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)

Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.

For testing of other sample types please contact the laboratory prior to sending.

Turnaround Time: Between 2 weeks and 4 weeks
Contact Information
Contact the Cytogenetics Laboratory via: LabLink ext 22000

Background Information

Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop. The first attack usually occurs in the second or third decade. Recovery from acute neuropathy is often complete; when recovery is not complete, the resulting disability is usually mild. Some affected individuals also have signs of a mild to moderate peripheral neuropathy.

The diagnosis of HNPP is established in an adult with recurrent focal compression neuropathies who has a family history consistent with autosomal dominant inheritance.

PMP22 is the only gene known to be associated with HNPP. A contiguous gene deletion of chromosome 17p11.2 that includes PMP22 is present in approximately 80% of affected individuals; the remaining 20% have a mutation in PMP22 .

Dosage analysis of PMP22 is available.

For more information about the Molecular Karyotype service at LabPLUS:

Molecular Karyotype Service

Last updated at 12:29:29 01/06/2017