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

R73

Duchenne or Becker muscular dystrophy

Test Group

Neurology

Specialties

Clinical Genetics Paediatrics Neurology

Test code

R73.1

Test name

N/A

Target genes

DMD

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

1. Individuals with clinical features strongly suggestive of Duchenne or Becker muscular dystrophy AND elevated creatine kinase
2. Testing a female family member of an affected male known to have or likely to have had Duchenne or Becker muscular dystrophy, but without confirmed molecular diagnosis.

Test code

R73.2

Test name

N/A

Target genes

DMD

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Individuals with clinical features strongly suggestive of Duchenne or Becker muscular dystrophy AND elevated creatine kinase
2. Testing a female family member of an affected male known to have or likely to have had Duchenne or Becker muscular dystrophy, but without confirmed molecular diagnosis.

Commissioning group

Specialised

Overlapping idications

• R79 Congenital muscular dystrophy test should be considered following discussion with Neuromuscular specialist in atypical cases • 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

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