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Order or find a test

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

R458

Young onset or familial dementia

Test Group

Neurology

Specialties

Clinical Genetics Neurology Psychiatry

Test code

R458.1

Test name

Young onset or familial dementia

Target genes

Test scope

Exon level CNVs, Small variants, STRs

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria

Unexplained dementia where acquired causes (e.g. stroke, tumour) have been excluded AND
a. Age at onset <55 years, OR b. First or second degree relative with MND/ALS OR c. Neurological features suggestive of a monogenic disorder where cognitive impairment is part of a wider phenotype, OR d. Family history highly suggestive of a monogenic cause for dementia for example one or more first or second degree relatives with dementia onset <65y where the type of dementia is the same as the proband. NOTE a family history of dementia of uncertain or mixed type where onset is predominantly over 65y is unlikely to represent a monogenic disorder.

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

Contact with queries

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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