Clinical Indication ID & Name
R70
Spinal muscular atrophy type 1 diagnostic test
Test Group
Core
Specialties
Test code
R70.1
Test name
N/A
Target genes
SMN1
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of spinal muscular atrophy type 1
Commissioning group
Core
Overlapping idications
• R69 Hypotonic infant with a likely central cause test should be used in floppy babies where the clinical picture is suggestive of a central cause, i.e. particularly where the baby is not alert, but lethargic or sleepy
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