Getting a Diagnosis

Advice on Genetics and Counselling

Professor Heinz Jungbluth MD PhD MRCP MRCPCH

Professor Heinz Jungbluth MD PhD MRCP MRCPCH

Professor and Consultant in Paediatric Neurology Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London.


Professor Heinz Jungbluth, who was involved in discovering some of the genes implicated in centronuclear myopathy advises the following:

“Achieving a precise genetic diagnosis is the ultimate aim of our assessment. However, a careful review of clinical and muscle biopsy findings remains extremely important to inform the choice of testing, which for some genes is still very laborious even with the most sophisticated techniques currently available. It is therefore important that prior to genetic testing the child is referred either by their local Consultant Paediatrician or Paediatric Neurologist, and assessed at a tertiary neuromuscular centre with an expertise in centronuclear and other congenital myopathies.

In addition, one or more further genes that cause centronuclear myopathy have yet to be identified – not everyone affected by the condition has a change in one of the genes we can currently test for. However it is still important that patients with an unconfirmed genetic mutation are known to us, and therefore hopefully involved in future clinical studies to help identify other, even rarer genes associated with MTM/CNM.”

For more general information on the genes which have already been identified in centronuclear myopathy, please read Professor Heinz Jungbluth’s overview of MTM/CNM.

Genetic testing in the UK

Genetic testing is free to people living in the UK. Genetic testing for myotubular/centronuclear myopathy and other congenital myopathies, is available at the Diagnostic DNA Laboratory, Guy’s Hospital, London. Diagnostic genetic testing can be arranged following specialist input from a tertiary neuromuscular centre experienced in the diagnosis and management of myotubular/centronuclear myopathy, such as the neuromuscular team led by Professor Francesco Muntoni at the Dubowitz Neuromuscular Centre, Great Ormond Street Children’s Hospital, or the neuromuscular team lead by Professor Heinz Jungbluth at the Evelina Children’s Hospital, London. For more information or advice on obtaining a genetic diagnosis, please contact us.

Meeting the needs of adult patients

In recognition of the often unmet needs of adults with centronuclear and other congenital myopathies, Professor Jungbluth has also established a joint adult congenital myopathy clinic with his colleague Dr Fiona Norwood, Consultant Neurologist with a special interest in neuromuscular disorders at King’ College Hospital. Patients with centronuclear myopathy who would like to be seen in this clinic should be referred either by their GP or local Consultant to:

Fiona Norwood FRCP PhD
Consultant Neurologist, Honorary Senior Lecturer and Lead Clinician
9th Floor Ruskin Wing
King’s College Hospital
Denmark Hill, London SE5 9RS

Tel: 020 3299 8343
Fax: 020 3299 8358

A genetic testing service for patients from abroad

Common practices in genetics services do not exist across Europe, and in some countries genetic counselling is not available.  If you are having difficulty obtaining a genetic diagnosis through your own country’s healthcare services, you may wish to seek this service privately. You can contact one of the following laboratories directly for advice and costings:

Genetics Services at Guy’s & St Thomas Hospital, London UK

Genetics Services at Great Ormond Street Hospital, London UK

The genetic testing service for patients affected by centronuclear/myotubular myopathy is free for patients on the NHS and available for a fee for patients from abroad.

For requests for genetic testing in MTM/CNM patients from abroad, a referral letter should be sent to Professor Heinz Jungbluth at the address below, outlining the patient’s salient clinical and muscle biopsy findings, in order to allow an informed choice of the appropriate genetic test.

Information about the cost of testing for non-NHS patients can be obtained by contacting the laboratory at the Guy’s Hospital address detailed below.

Professor Heinz Jungbluth
Professor and Consultant in Paediatric Neurology
Department of Paediatric Neurology – Neuromuscular Service
Evelina Children’s Hospital – 6th Floor, Sky
St. Thomas’ Hospital
Lambeth Palace Road
London SE1 7EH
United Kingdom

phone: 0207 188 3998 (secretary)
fax: 0207 188 0851

A copy of the muscle biopsy report, digital images from the muscle biopsy or the original muscle biopsy slides are also very helpful in determining the appropriate test.

The DNA sample for testing should be sent with a copy of the referral letter to:

DNA Laboratory
GSTS Pathology
5th Floor, Guy’s Tower
Guy’s Hospital
Great Maze Pond
London SE1 9RT
United Kingdom

Phone: 020 718 82582
Fax: 020 718 87273

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