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Diagnosis of genetic cause in motor neuron disease patients could be missed due to age limits on genetic testing

Diagnosis of genetic cause in motor neuron disease patients could be missed due to age limits on genetic testing

Based on the findings of a new study published in Brain, researchers from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London are calling for a complete rethink of the national guidelines surrounding who can access genetic testing for amyotrophic lateral sclerosis (ALS), also called motor neuron disease. The research suggests that there are hundreds of people with ALS in the UK for whom a genetic basis of their ALS is being missed, as they do not fit the narrow requirements for genetic testing. As guidelines are similar in many countries, this situation will likely be the same internationally, meaning potentially thousands of people being unaware of a genetic link to their ALS.