Clinical Indication ID & Name
CADASIL
Test Group
Neurology
Specialties
Test code
R337.1
Test name
N/A
Target genes
NOTCH3
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
A confident clinical diagnosis of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) including:
Cerebral ischaemic event below age of 50 or >50 if with a family history of dementia/migraine, AND one or more of:
1. Cognitive impairment with recurrent ischaemic attacks, OR
2. Subcortical lacunar lesions on MRI scan in white matter
Commissioning group
Specialised
Overlapping idications
• R58 Adult onset neurodegenerative disorder test should be used in atypical cases where a broader differential diagnosis is under consideration
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