Clinical Indication ID & Name
R71
Spinal muscular atrophy type 1 rare mutation testing
Test Group
Neurology
Specialties
Test code
R71.1
Test name
N/A
Target genes
SMN1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Individuals in whom a rare mutation in the SMN1 gene is likely. This will mainly be used for individuals with clinical features of spinal muscular atrophy (SMA) type 1 and monoallelic copy number mutation of SMN1
Commissioning group
Specialised
Overlapping idications
• R70 Spinal muscular atrophy type 1 diagnostic test should be used first where clinical features are suggestive of spinal muscular atrophy type 1 and SMN1 copy number has not been tested.
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
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form