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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R461

Cerebral amyloid angiopathy

Test Group

Neurology

Specialties

Clinical Genetics Neurology Psychiatry

Test code

R461.1

Test name

Cerebral amyloid angiopathy

Target genes

Test scope

Exon level CNVs, Small variants, STRs

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Cerebral amyloid angiopathy (CAA) with a likely monogenic cause AND:
a. Age of onset < 50 years OR b. Family history of haemorrhagic stroke (intracerebral haemorrhage or convexity subarachnoid haemorrhage) or dementia AND c. Clinical presentation in keeping with CAA i.e. transient focal neurological episodes (“amyloid spells”), intracerebral haemorrhage, convexity subarachnoid haemorrhage, cognitive impairment, dementia AND d. Radiological features consistent with CAA i.e. two or more strictly lobar haemorrhagic lesions on blood sensitive MRI, which can include intracerebral haemorrhage, cerebral microbleeds, cortical superficial siderosis or convexity subarachnoid haemorrhage OR e. Other investigations supportive of amyloid-beta deposition within the central nervous system e.g. amyloid-PET imaging, CSF amyloid-beta measures, brain biopsy

Commissioning group

n/a

Overlapping idications

The gene content of the Adult onset neurological disorders panel includes all genes on Hereditary ataxia with onset in adulthood (R54), Adult onset dystonia, chorea or related movement disorder (R56) Adult onset neurodegenerative disorders (previously R58, now R458, R459, R460 & R461), Adult onset hereditary spastic paraplegia (R60)

Address for samples/request forms

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Supporting documents

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Education resources

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Turn around times

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Request form download

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Consent record

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Sample requirements

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