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.

Whole Genome Sequencing

Test code

Clinical Indication

Genes in the panel – links to PanelApp

R56

Dystonia-adult onset

chorea or related movement disorder

https://nhsgms-panelapp.genomicsengland.co.uk/panels/540/v2.0

R57

Dystonia- childhood onset or chorea or related movement disorder

https://nhsgms-panelapp.genomicsengland.co.uk/panels/847/v2.0

R60

Hereditary spastic paraplegia- adult onset

https://nhsgms-panelapp.genomicsengland.co.uk/panels/567/v2.0

R61

Hereditary spastic paraplegia- childhood onset

https://nhsgms-panelapp.genomicsengland.co.uk/panels/568/v3.0

R78

Hereditary neuropathy or pain disorder – not PMP22 copy  number

https://nhsgms-panelapp.genomicsengland.co.uk/panels/846/v2.0

R83

Arthrogryposis

https://nhsgms-panelapp.genomicsengland.co.uk/panels/258/v4.0

R85

Holoprosencephaly

https://nhsgms-panelapp.genomicsengland.co.uk/panels/78/v3.0

R86

Hydrocephalus

https://nhsgms-panelapp.genomicsengland.co.uk/panels/179/v3.0

R88

Severe microcephaly

https://nhsgms-panelapp.genomicsengland.co.uk/panels/162/v3.0

R109

Childhood onset leukodystrophy

https://nhsgms-panelapp.genomicsengland.co.uk/panels/496/v10.2

R381

Other rare neuromuscular disorders

https://nhsgms-panelapp.genomicsengland.co.uk/panels/465/v12.1

R419

Acute Rhabdomyolysis

https://nhsgms-panelapp.genomicsengland.co.uk/panels/1141/v1.0

 

The table below lists the other neurology associated tests provided by WMRGL

Other neurology associated tests

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 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

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