National muscular dystrophy & myopathy service
This is a national specialist service which includes expert clinical advice from the world leading neuromuscular Dubowitz Centre.
This is a unique and highly specialised genomic testing service for anyone in England and Scotland who is suspected of having either congenital muscular dystrophy or congenital myopathy.
The service combines genetic testing and analysis at Guy’s Hospital, with expert clinical advice and input from the world leading neuromuscular team at the Dubowitz Centre at Great Ormond Street.
What is the neuromuscular service?
This is a national service offers genetic testing to patients with a suspected congenital myopathy or muscular dystrophies.
The National Genomic Test Directory details the tests that are available on the NHS. It also determines the eligibility criteria for each test as well as the number of genes analysed and the testing techniques used.
The service covers two key genetic tests:
- R79 for Congenital Muscular Dystrophy (CMD)
- R81 for Congenital Myopathy
Both tests can only be requested by Clinical Genetics or a neurologist.
The pathway
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Use the Record of Discussion form to discuss the possible implications of the genomic test with the patient/family and take their informed consent for testing.
If you need further support, visit this page which has further details on ordering a genomic test.
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Complete the Test Request form.
Please include as many clinical features as possible. The more information, the more accurate we can be with our analysis.
The form is designed to be completed electronically and printed; a paper copy MUST be included with all referrals.
Handwritten forms are acceptable, but any handwritten text MUST be written clearly and legibly to avoid delays to testing.
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Take a blood sample using the EDTA purple tubes.
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Send sample to Guy’s Hospital
Genetics Laboratory
5th Floor, Tower Wing
Guy’s Hospital
London
SE1 9R -
Testing and analysis completed by genomic experts. The turnaround time for this test is 42 days.
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Report is issued by the Genomic Medicine Service to the referring clinician. A copy is also sent to the Dubowitz Centre which is based at Great Ormond Street Hospital.
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Clinicians from the Dubowitz service will get in touch directly with the referring clinician with advice and support based on the genetic test results.
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If you have any queries please contact us on gst-tr.southeastglh@nhs.net