One Test for Over 50 Genetic Diseases!


Garvan Institute researchers have developed a single DNA test that can scan a patient's genome for more than 50 genetic neurological and neuromuscular diseases, such as Huntington's disease, muscular dystrophy and frajil X syndrome.

The study, published in Science Advances, shows that the test is accurate and allows the team to begin verifications to make the test available to pathology services worldwide.

The new test prevents a 'diagnostic journey' for patients that can take decades with faster, more accurate diagnosis. The team expects its tests to be standard in global pathology laboratories within five years.

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Study Details: Stevanovski I, et al. Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Science Advances, 2022; 8 (9)