Request / Find a Test Tool

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.

Spinal muscular atrophy type 1 diagnostic test

Clinical Indication ID & Name


Spinal muscular atrophy type 1 diagnostic test

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology

MLPA or equivalent

Optimal Family Structure


Eligibility Criteria

Clinical features suggestive of spinal muscular atrophy type 1

Commissioning group


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


Education resources


Service updates


Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form