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

R70

Spinal muscular atrophy type 1 diagnostic test

Test Group

Core

Specialties

Clinical Genetics Neonatology Neurology Paediatrics

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

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