Single test for over 50 genetic diseases will cut diagnosis from decades to days
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 has shown 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. …read more
