Clinical Indication ID & Name
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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old