Clinical Indication ID & Name
R68
Huntington disease
Test Group
Core
Specialties
Test code
R68.1
Test name
N/A
Target genes
HTT STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features that indicate a likely diagnosis of Huntington disease
• Specialties other than those listed in Requesting Specialties may request tests in certain settings following discussion with their local laboratory-clinical team
Commissioning group
Core
Overlapping idications
• R56 Adult onset dystonia, chorea or related movement disorder or other relevant broader test should be used where clinical features are not strongly suggestive of Huntington disease
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