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 

Turnaround Times

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

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/v4.0
R57	Dystonia - childhood-onset or chorea or related movement disorder	https://nhsgms-panelapp.genomicsengland.co.uk/panels/847/v5.0
R60	Hereditary spastic paraplegia - adult onset	https://nhsgms-panelapp.genomicsengland.co.uk/panels/567/v5.0
R61	Hereditary spastic paraplegia - childhood onset	https://nhsgms-panelapp.genomicsengland.co.uk/panels/568/v5.0
R62	Adult onset leukodystrophy	https://nhsgms-panelapp.genomicsengland.co.uk/panels/579/v5.0
R78	Hereditary neuropathy or pain disorder – not PMP22 copy number	https://nhsgms-panelapp.genomicsengland.co.uk/panels/846/v5.0
R83	Arthrogryposis	https://nhsgms-panelapp.genomicsengland.co.uk/panels/258/v7.0
R85	Holoprosencephaly	https://nhsgms-panelapp.genomicsengland.co.uk/panels/78/v5.0
R86	Hydrocephalus	https://nhsgms-panelapp.genomicsengland.co.uk/panels/179/v5.0
R88	Severe microcephaly	https://nhsgms-panelapp.genomicsengland.co.uk/panels/162/v6.0
R109	Childhood-onset leukodystrophy	https://nhsgms-panelapp.genomicsengland.co.uk/panels/496/v23.1
R381	Other rare neuromuscular disorders	https://nhsgms-panelapp.genomicsengland.co.uk/panels/465/v23.7

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

 

Other neurology-associated tests

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/v1.7

STRs

For the Neurology Clinical Indications with STRs and the respective repeat size ranges click here.

_{Updated 07/10/2024}