Clinical Indication ID & Name
R83
Arthrogryposis
Test Group
Neurology
Specialties
Test code
R83.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features that indicate arthrogryposis of monogenic aetiology
Test code
R83.3
Test name
N/A
Target genes
Arthrogryposis (258)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features that indicate arthrogryposis of monogenic aetiology
Commissioning group
Specialised
Overlapping idications
• R266 Neuromuscular arthrogryposis test should be used where a neuromuscular cause is confirmed
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
n/a
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