Children could be diagnosed at birth or early infancy
MELBOURNE researchers have developed a new test to diagnose the genetic disorder Fragile X syndrome, the most common inherited cause of autism. The syndrome, which affects about 70,000 Australians, is currently difficult to diagnose in girls, who may carry the gene but are largely free of symptoms.
Researchers at the Murdoch Childrens Research Institute discovered that an inexpensive blood test that analyses a DNA region not previously targeted for the syndrome was accurate at identifying the type and severity of symptoms it will cause. The new test would mean that children could be diagnosed at birth or early infancy, rather than waiting for symptoms to appear at about three years.
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