The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Clinical Indication ID & Name

R71

Spinal muscular atrophy type 1 rare mutation testing

Test Group

Neurology

Specialties

Clinical Genetics Neurology

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool