Clinical Indication ID & Name
Segmental or atypical neurofibromatosis type 1 testing
Test Group
Neurology
Specialties
Test code
R376.1
Test name
N/A
Target genes
NF1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of segmental or atypical neurofibromatosis type 1 or individuals with classical neurofibromatosis who have tested negative on gDNA analysis requiring cDNA analysis following discussion with highly specialised service
Test code
R376.2
Test name
N/A
Target genes
NF1
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of segmental or atypical neurofibromatosis type 1 or individuals with classical neurofibromatosis who have tested negative on gDNA analysis requiring cDNA analysis following discussion with highly specialised service
Commissioning group
Highly Specialised
Overlapping idications
n/a
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
Rare Disese WGS Clinician pack
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