2x EDTA specimen required
WHOLE BLOOD. Photocopy the form.
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.
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.
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.