Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R345

Facioscapulohumeral muscular dystrophy - extended testing

Test Group

Neurology

Specialties

Clinical Genetics Neurology

Test code

R345.1

Test name

N/A

Target genes

DUX4

Test scope

n/a

Test method/ technology

Methylation testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly suggestive of facioscapulohumeral muscular dystrophy (FSHD) in whom a DUX4 contraction has been excluded

Test code

R345.2

Test name

N/A

Target genes

SMCHD1

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly suggestive of facioscapulohumeral muscular dystrophy (FSHD) in whom a DUX4 contraction has been excluded

Test code

R345.3

Test name

N/A

Target genes

4q

Test scope

n/a

Test method/ technology

Other

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features strongly suggestive of facioscapulohumeral muscular dystrophy (FSHD) in whom a DUX4 contraction has been excluded

Commissioning group

Specialised

Overlapping idications

• R74 Facioscapulohumeral muscular dystrophy test should be used where DUX4 contraction has not been excluded • R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies and broader tests such as R381 Other rare neuromuscular disorders should be considered where features are atypical

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old