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
South East GLH
Genetics Specimen Reception
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