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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

R460

Amyotrophic lateral sclerosis

Test Group

Neurology

Specialties

Clinical Genetics Neurology Psychiatry

Test code

R460.1

Test name

Amyotrophic lateral sclerosis

Target genes

Test scope

Exon level CNVs, Small variants, STRs

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Amyotrophic lateral sclerosis (ALS) with a likely monogenic cause, with or without frontotemporal dementia AND:
a. Evidence of lower motor neuron (LMN) degeneration by clinical, electrophysiologic or neuropathologic examination, AND
b. Evidence of upper motor neuron (UMN) degeneration by clinical examination, AND
c. Progressive course, AND
e. No evidence of other aetiology

Where in Pathway
At presentation following assessment by a Neurologist

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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