Clinical Indication ID & Name
Adult onset neurodegenerative disorder
Test Group
Neurology
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form