Test Your Child with Autism Genetics Detector

CMR presents many opportunities for detecting and preventing autism (Photo by Flickr/woodleywonderworks)

According to the online journal Pediatrics, a recent study has shown the most effective way to detect autism in your child. The genetic testing process, Chromosomal Microarray Analysis (CMA) has the ability to discover more abnormalities that may cause autism.

The study involved researchers from facilities and establishments including Children’s Hospital and Harvard Medical School, both in Boston, Massachusetts. Co-researcher Yiping Shen, PhD, assistant director of the genetics diagnostic laboratory, and colleagues presented the results of the study, establishing CMA as the leader in autism diagnosis, outweighing both Fragile X and G-Banded Karyotype detection in genes.

In an analysis of 800 patients, Shen commented,” CMA had the highest detection rate among clinically available genetic tests for patients with ASD.”

Bai-Lin Wu, PhD is part of the Children’s Hospital and a co-researcher in the CMA study. Both Wu and Shen liken Karyotype testing to a map that can detect a highway that’s missing in a state. In comparison, CMA testing would be a map that can detect specific and individual highway exits that are missing in a state. Thus, CMA would yield on target results.

By integrating CMA into autism early intervention therapies, these scientific advances edge us closer to finding a cure for autism. Shen and colleagues agreed “On the basis of our results, genetic diagnosis will be missed in at least 5 percent of ASD cases without CMA, and our results suggest that CMA with whole-genome coverage should be adopted as a national standard of care for genetic testing among patients with ASDs.”

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