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Rudy Sims

Hope for a Better Genetic Test for Autism TIME (blog)


Expecting parents who have one child or other family members with an autism spectrum disorder often request genetic testing to determine their unborn child's risk for autism. Currently, however, the most frequently used genetic tests—karyotyping, which examines a sample of cells for abnormalities and testing for Fragile X syndrome, a condition that can cause developmental problems and is known as a leading genetic cause of autism spectrum disorders—most often come up negative. Yet another technique, known as chromosomal microarray analysis (CMA), which examines the entire genome, homing in on tiny variations in DNA sequences, may offer better, more accurate results, according to a large-scale study published in the April issue of the journal Pediatrics.


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