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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form