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

R58

Adult onset neurodegenerative disorder

Test Group

Neurology

Specialties

Clinical Genetics Neurology Psychiatry

Test code

R58.3

Test name

N/A

Target genes

Neurodegenerative disorders - adult onset (474) STR

Test scope

n/a

Test method/ technology

STR testing

Optimal Family Structure

n/a

Eligibility Criteria

Young onset or familial neurodegeneration starting in adulthood with a likely monogenic cause, including:
1. Unexplained dementia
a. Age at onset <55 years where acquired causes (e.g. stroke, tumour) have been excluded, OR b. Family history of dementia of the same type and/or family history of MND in a first / second degree relative 2. Parkinson’s disease or complex Parkinsonism a. Age at onset <50 years, OR b. First degree relative affected at <50 years, OR c. Complex features such as spasticity, gaze palsy, early dementia, early bulbar failure, dyspraxia, ataxia, postural hypotension, cortical sensory loss, brain iron accumulation on MRI brain 3. Amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia 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 d. Age of onset <50 years or family history of ALS or frontotemporal dementia, AND e. No evidence of other aetiology

Test code

R58.4

Test name

N/A

Target genes

Neurodegenerative disorders - adult onset (474)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Young onset or familial neurodegeneration starting in adulthood with a likely monogenic cause, including:
1. Unexplained dementia
a. Age at onset <55 years where acquired causes (e.g. stroke, tumour) have been excluded, OR b. Family history of dementia of the same type and/or family history of MND in a first / second degree relative 2. Parkinson’s disease or complex Parkinsonism a. Age at onset <50 years, OR b. First degree relative affected at <50 years, OR c. Complex features such as spasticity, gaze palsy, early dementia, early bulbar failure, dyspraxia, ataxia, postural hypotension, cortical sensory loss, brain iron accumulation on MRI brain 3. Amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia 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 d. Age of onset <50 years or family history of ALS or frontotemporal dementia, AND e. No evidence of other aetiology

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

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