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.

Duchenne or Becker muscular dystrophy

Clinical Indication ID & Name

R73

Duchenne or Becker muscular dystrophy

Test Group

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

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

n/a

Education resources

n/a

Service updates

n/a

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form