Clinical Indication ID & Name
Hereditary neuropathy or pain disorder – NOT PMP22 copy number
Test Group
Neurology
Specialties
Test code
R78.2
Test name
N/A
Target genes
AR STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features that indicate a likely hereditary neuropathy or pain disorder in whom PMP22 copy number abnormalities are clinically unlikely or have already been excluded
Test code
R78.4
Test name
N/A
Target genes
Hereditary neuropathy NOT PMP22 copy number (846)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features that indicate a likely hereditary neuropathy or pain disorder in whom PMP22 copy number abnormalities are clinically unlikely or have already been excluded
Commissioning group
Specialised
Overlapping idications
• R77 Hereditary neuropathy - PMP22 copy number test should be used where PMP22 copy number abnormalities are possible • 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