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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.
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.
The University of Chicago (UC) does clinical testing for the MTM1 gene, which causes the X-linked form of MTM and the DNM2 gene, the gene discovered to be related to Autosomal Dominant Centronuclear Myopathy. A patient can send a blood sample to UC for clinical testing. A charge is generated for any clinical testing in the USA and a report from the lab is generated to document whether they did or did not find a mutation in the MTM1 or DNM2 gene. Further information about genetic testing at the University of Chicago
Research Projects Researchers are still searching for additional genes implicated in CNM / MTM that are not yet identified and patients / families can speed up the process by participating in the establishment of a patient database such as the Patient Registry, enrolling in research projects and asking their clinician / geneticist to send DNA to research laboratories for their research projects. In Europe contact Dr Jocelyn Laporte in Strasbourg and in the USA Dr Alan Beggs. Large families with several affected family members are especially suited for this kind of research, but sporadic cases could be helpful too.
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