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.
Referral forms can be found here and for turnaround times please check here
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.
The table below lists the other neurology-associated tests provided by WMRGL
|
Test |
Clinical Indication |
Target- method |
|---|---|---|
|
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 |
|
R337 |
CADASIL |
NOTCH3 sequencing |
STRs
For the Neurology Clinical Indications with STRs and the respective repeat size ranges click here.
Updated 11/10/2023