Neurology Genomic testing
The complete list of the Clinical Indications for neurology-associated rare disorders can be found in the National Genomics Test Directory. Testing is provided by the seven Genomic Laboratory Hubs across England. WMGL provides local, regional and national testing for the clinical indications listed below.
A number of clinical indications provide testing that is performed by other laboratories within the NHS, listed within the Test Directory, and can be requested via the WMGL referral form.
All patients’ samples should be sent to WMGL; DNA will be extracted and testing will either take place in WMGL or DNA will be forwarded for Whole Genome Sequencing or to our allocated provider according to NHS England’s instructions.
Please check the Test Directory eligibility criteria before you request any of these tests.
If further information is needed, please contact: bwc.rglneurologygenomics@nhs.net
WMGL Neurology Services
The table below lists the Neurology clinical indications on the Test Directory that are tested for by Whole Genome Sequencing at WMGL. Find further information on requesting WGS.
|
Test code |
Clinical Indication |
Genes in the panel – links to PanelApp |
|---|---|---|
|
R56 |
Adult-onset dystonia, chorea or related movement disorder
|
These indications, if selected, will have the Adult onset neurological disorders super-panel applied, which includes all of the genes on the previously available individual panels for 1) Hereditary ataxia with onset in adulthood, 2) Adult onset dystonia, chorea or related movement disorder, 3) Hereditary spastic paraplegia- adult onset and 4) Adult onset neurodegenerative disorders (previously R58, now R458, R459, R460 & R461). Please note that if R54, R458, R459, R460 or R461 are requested as primary indication for testing, then analysis and reporting will be issued by the Oxford Regional Genetics Laboratory. |
|
R60 |
Adult-onset hereditary spastic paraplegia |
|
|
R57 |
Childhood-onset dystonia, chorea or related movement disorder |
|
|
R61 |
Childhood-onset hereditary spastic paraplegia |
|
|
R62 |
Adult-onset leukodystrophy |
|
|
R78 |
Hereditary neuropathy or pain disorder |
|
|
R83 |
Arthrogryposis |
|
|
R85 |
Holoprosencephaly |
|
|
R86 |
Hydrocephalus |
|
|
R88 |
Severe microcephaly |
|
|
R109 |
Childhood onset leukodystrophy |
|
|
R381 |
Other rare neuromuscular disorders |
The table below lists the other neurology-associated tests provided by WMGL
|
Test |
Clinical Indication |
Target- method |
|---|---|---|
|
R54 and R78 |
CANVAS (Please note to accept this testing, a negative WGS test is required; see page 2 here for further information - Neurology STRs ) |
RFC1 gene Short Tandem Repeat PCR |
|
R70 |
Spinal muscular atrophy type 1 (SMA) |
SMN1 MLPA |
|
R252 |
SMA carrier testing at population risk for partners of known carriers |
SMN1 MLPA |
|
R77 |
Hereditary neuropathy PMP22 copy number |
PMP22 MLPA |
|
R228 |
Tuberous Sclerosis |
TSC1/TSC2 panel testing and MLPA |
|
R337 |
CADASIL |
NOTCH3 sequencing |
|
R419 |
Acute Rhabdomyolysis (Please note this can also be ordered as an additional panel via WGS, and ‘Rhabdomyolysis and metabolic muscle disorders’ panel is part of ‘Other rare neuromuscular disorders’ super-panel.) |
Panel sequencing under Acute Rhabdomyolysis panel |
STRs
Neurology Clinical Indications with STRs and the respective repeat size ranges.
Updated 26/08/2026