Clinical Indication ID & Name
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
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