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 forwarded for Whole Genome Sequencing or to our allocated provider according to NHS England’s instructions.
Please check the Test Directory eligibility criteria before your 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 |
|
PMP22 MLPA |
|
R337 |
CADASIL |
NOTCH3 sequencing |
STRs
For the Neurology Clinical Indications with STRs and for the respective repeat size ranges click here
Exome testing
For referrals from the devolved nations and for private referrals, the West Midlands Regional Genetics Laboratory can offer gene panel testing for the clinical indications listed above, using the Nonacus Cell3Target Exome CG enrichment system and Illumina NGS sequencer. The gene panels applied are the same as listed above, with the exception of R109 leukodystrophy panel, where a subpanel of 94 genes is applied. Data analysis is performed using the Congenica Clinical Decision support platform.
Updated 06/12/2022