2022: a genetic, diagnostic odyssey ends with the introduction of a new test

Collaboration between researchers at the Garvan Institute of Medical Research (Sydney, Australia) and teams in other parts of Australia, the UK and Israel has resulted in a new DNA test. The test has been verified as able to identify neurological and neuromuscular diseases with genetic origins, which have been noted as being difficult to diagnose. The findings, published in Science Advances, highlight how the new test can find diagnostic information quickly and more accurately. The diseases within the test’s capabilities are termed Short Tandem Repeat (SRT) expansion disorders, caused by abnormally long repetitive DNA sequences. Pathology services globally will now...