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It cuts diagnosis of muscular and neurological disorders, such as epilepsy and motor neurone disease, from decades to days.
An international team hailed it as a “game-changer”, and it could be in use in two years.
Patients will get earlier therapy, undergo fewer surgical procedures and avoid unnecessary drugs.
The illnesses are rare and often run in families, but do not present until adult life.
Study co-author Dr Kishore Kumar, of Concord hospital in Sydney, Australia, said: “This new test will revolutionise how we diagnose these diseases.”
“We can now test for all the disorders with a single DNA test and give a clear genetic diagnosis.”
“It will help patients avoid years of needless biopsies for diseases they don’t have, or risky treatments that suppress their immune system.”
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