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

R72

Myotonic dystrophy type 1

Test Group

Core

Specialties

Clinical Genetics Neurology

Test code

R72.1

Test name

N/A

Target genes

DMPK STR

Test scope

n/a

Test method/ technology

STR testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly suggestive of myotonic dystrophy 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 • 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

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