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 to our allocated provider according to NHS England’s instructions.

WMRGL Neurology services

• R70 Spinal muscular atrophy type 1 (SMA)
• R252 SMA carrier testing at population risk for partners of known carriers
• R77 Hereditary neuropathy PMP22 copy number
• R78 Hereditary neuropathy or pain disorder- not PMP22 copy number
• R56 Adult onset dystonia, chorea or related movement disorder
• R57 Childhood onset dystonia, chorea or related movement
• R60 Adult onset hereditary spastic paraplegia
• R61 Childhood onset hereditary spastic paraplegia
• R62 Adult onset leukodystrophy
• R83 Arthrogryposis 
• R381 Other rare neuromuscular disorders 
• R85 Holoprosencephaly - NOT chromosomal
• R86 Hydrocephalus
• R88 Severe microcephaly
• R109 Childhood onset leukodystrophy
• R337 CADASIL
• R419 Acute Rhabdomyolysis 

For Neurology Clinical Indications with STRs and STR repeat size ranges table click here

_{Updated 26/04/2022}