- A single DNA test has been developed that can screen a patient’s genome for over 50 genetic neurological and neuromuscular diseases such as Huntington’s disease, muscular dystrophies and fragile X syndrome.
- The new test avoids a ‘diagnostic odyssey’ for patients that can take decades.
- The team, from Australia, UK and Israel, has shown, in a paper today in Science Advances that the test is accurate. They are now working on validations to make it available in pathology labs.
- They expect it to be standard in global pathology labs within five years.
A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.
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