Clinical Indication ID & Name
Paroxysmal central nervous system disorders
Test Group
Neurology
Specialties
Test code
R66.1
Test name
N/A
Target genes
Paroxysmal central nervous system disorders (541)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Paroxysmal central nervous system disorder that is likely to be monogenic in aetiology
Test code
R66.2
Test name
N/A
Target genes
Paroxysmal central nervous system disorders (541)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Paroxysmal central nervous system disorder that is likely to be monogenic in aetiology
Commissioning group
Specialised
Overlapping idications
• R56 Adult onset dystonia, chorea or related movement disorder or R57 Childhood onset dystonia, chorea or related movement disorder tests should be used in individuals with dystonia • R89 Ultra-rare and atypical monogenic disorders or other relevant broader tests should be used in individuals with complex or syndromic presentations
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form