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 2 (DM2)

Clinical Indication ID & Name


Myotonic dystrophy type 2 (DM2)

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology

STR testing

Optimal Family Structure


Eligibility Criteria

1. Adult with muscle weakness, usually proximal, and one of the following:
a. Clinical Myotonia: of grip or on percussion
b. EMG evidence of myotonic discharges
c. Cataracts (fine dust like opacities on the outer layers of the lens that are highly coloured and iridescent, producing a “Christmas Tree” appearance)
d. Three or more supportive features (from list below)
e. Family History suggestive of autosomal dominant inheritance
2. AND DM1 excluded first if the clinical presentation/Family history could easily fit DM1
3. OR Family history of mutation positive DM2
Additional supportive features:
• Elevated serum CK
• Insulin-insensitive type 2 diabetes
• Testicular failure
• Cardiac conduction defects
• Low serum IgG or IgM
• Muscle biopsy showing atrophic fibres and proliferation of fibres with central nuclei
• Excessive daytime sleepiness
• Mildly elevated liver function tests (LFT)
• Muscle pain

Commissioning group


Overlapping idications

• R72 Myotonic dystrophy type 1 should be used prior to this indication unless there is clinical suspicion of myotonic dystrophy type 2 • R381 Other rare neuromuscular disorders should be used where clinical features are atypical and a broader range of genes are potentially causative

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