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.

Facioscapulohumeral muscular dystrophy

Clinical Indication ID & Name


Facioscapulohumeral muscular dystrophy

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology


Optimal Family Structure


Eligibility Criteria

Clinical features strongly suggestive of facioscapulohumeral muscular dystrophy (FSHD) in whom a DUX4 contraction has not been excluded

Commissioning group


Overlapping idications

• R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies and broader tests such as R89 Ultra-rare and atypical monogenic disorders should be considered where features are atypical • R345 Facioscapulohumeral muscular dystrophy (FSHD) extended testing should be considered in cases negative for the test where clinical features are strongly suggestive of FSHD • 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


Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form