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New DNA Test Identifies 50+ Genetic Diseases

This one test screens for every known disease-causing repeat expansion sequence, allowing for much quicker diagnosis and treatment.

Dr. Ira Deveson of the Garvan Institute of Medical Research. Credit: Garvan Institute of Medical Research via SciTechDaily
Dr. Ira Deveson of the Garvan Institute of Medical Research. Credit: Garvan Institute of Medical Research via SciTechDaily

A recent SciTechDaily article discussed a new DNA test that identifies hard-to-diagnose neurological and neuromuscular genetic diseases better and faster than traditional tests. The test, developed by researchers at Sydney’s Garvan Institute of Medical Research and contributors from Australia, UK and Israel, covers a class of more than 50 diseases classified as “Short Tandem Repeat (STR) expansion disorders.” These are diseases caused by an abnormally long repetitive DNA sequence in a patient’s genes.

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