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. WMRGL provides local, regional and national testing for the clinical indications listed below.
All patients’ samples should be sent to WMRGL; DNA will be extracted and testing will either take place in WMRGL 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
WMRGL Neurology services
The table below lists the Whole Genome Sequencing tests provided by WMRGL.
Further information on requesting WGS can be found via Whole Genome Sequencing - Rare Disease C&S GLH
The table below lists the other neurology-associated tests provided by WMRGL
|
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 |
Panel sequencing - https://nhsgms-panelapp.genomicsengland.co.uk/panels/1400/v1.0 + TSC1/TSC2 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 - https://nhsgms-panelapp.genomicsengland.co.uk/panels/1141/v2.0 |
STRs
Neurology Clinical Indications with STRs and the respective repeat size ranges.
Updated 07/10/2024