Genetic Testing

A genetic test or molecular diagnosis can help diagnose a genetic condition, may be able to tell you for certain about you or your child's genetic makeup and help to identify if there is a change in a particular gene or chromosome.

Further information about genetic testing and the benefits and risks involved is available from the Genetic Interest Group. Information about genes and genetics is also available at the resources area of this website.

In addition to the information provided in this area of the website, patients in the UK and Europe are advised to check the UK Genetic Testing Network website and Orpha.net for the latest information about clinical testing laboratories and to discuss any concerns with their geneticist or neurologist.

Where is Genetic Testing Available?

Genetic testing is available from the following establishments. The Information Point provides details of these establishments for information only. Those interested in genetic testing should read all available literature and satisfy themselves as to which if any of the places detailed are suitable for their individual needs before entering into any arrangement financial or otherwise.

• Guy's and St Thomas' Hospital
• Prevention Genetics
• The University of Chicago

Research Projects

Researchers are still searching for additional genes implicated in CNM / MTM that are not yet identified. The more researchers know about those with Centronuclear / Myotubular Myopathy the more progress they will make in finding a cure.

Learn how to Participate in Research.