Clinical Indication ID & Name
Hereditary neuropathy - PMP22 copy number
Test Group
Core
Specialties
Test code
R77.1
Test name
N/A
Target genes
PMP22
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Hereditary neuropathy where PMP22 copy number abnormalities are possible
Commissioning group
Core
Overlapping idications
• R78 Hereditary neuropathy or pain disorder – NOT PMP22 copy number test should be used where PMP22 copy number abnormalities are clinically unlikely or have already been excluded • R89 Ultra-rare and atypical monogenic disorders or R27 Congenital malformation and dysmorphism syndromes – likely monogenic tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old