Scientists have developed a quick genetic test that can diagnose a large range of rare muscle and nerve diseases with near perfect accuracy.
he and his colleagues at the Garvan Institute for Medical Research in Australia refer to this stressful process as the 'diagnostic odyssey'. As patients like John wait years and years for answers, their symptoms grow gradually worse.
"This new test will completely revolutionize how we diagnose these diseases, since we can now test for all the disorders at once with a single DNA test and give a clear genetic diagnosis,"Kumar,"helping patients avoid years of unnecessary muscle or nerve biopsies for diseases they don't have, or risky treatments that suppress their immune system."
Among 37 patients who were tested using this method, including John, all were correctly matched to their neurogenetic disease.
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