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.

Myotonic dystrophy type 1

Clinical Indication ID & Name


Myotonic dystrophy type 1

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology

STR testing

Optimal Family Structure


Eligibility Criteria

Clinical features strongly suggestive of myotonic dystrophy 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 • R381 Other rare neuromuscular disorders should be used where clinical features are atypical and a broader range of genes are potentially causative • R410 Myotonic dystrophy type 2 should be used where there is clinical suspicion of myotonic dystrophy type 2 or where myotonic dystrophy type 1 has been excluded

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