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4.10.10 Faster Diagnostic Testing For UK Patients
Dr Stephen Abbs,
Dr Heinz Jungbluth MD PhD MRCP MRCPCH,
Fiona Norwood FRCP PhD, Consultant Neurologist,
The four genes so far identified as causing myotubular (MTM) and centronuclear myopathy (CNM), namely MTM1, DNM2, BIN1 and RYR1, can all now be tested for in the UK by Dr Stephen Abbs and his team in the DNA Laboratory of GSTS Pathology, Guy's & St Thomas' Hospital, London.
Until recently, patients in the UK would have had their DNA (blood samples) sent to laboratories in France and Germany making the testing a lengthy process and often taking several months before the patient was able to receive any results. The new UK testing facility is currently funded through the NCG Service for Congenital Muscular Dystrophies and Myopathies for the RYR1 gene, and through a grant from the Guy’s & St Thomas’ Charitable Foundation to Dr Abbs and his colleague Dr Heinz Jungbluth, a Paediatric Neurologist and researcher with a special interest in centronuclear myopathy, for all other genes implicated in CNM. This new service means that waiting times for results has now been drastically reduced for UK patients to around 8 weeks.
For more general information on the genes which have already been identified in centronuclear myopathy, please read Dr Meriel McEntagart's overview of MTM/CNM on our Myotubular Trust website. Dr Meriel McEntagart is a Consultant Clinical Geneticist at St George's Hospital in London and has a special interest in inherited neuromuscular disorders.
A Genetic Testing Service For NHS Patients And Patients From Abroad
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 Dr 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.
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:
Meeting the Needs of Adult Patients
In recognition of the often unmet needs of adults with centronuclear and other congenital myopathies, Dr Jungbluth has also recently 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,