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Comparative review identifies most accurate genetic test for autism

Category: General Health

A comprehensive new study has found that chromosomal microarray analysis (CMA) is the most accurate genetic test used to detect abnormalities that relate to autism spectrum disorders (ASDs).

Because it is relatively new, chromosomal microarray analysis, which examines the chromosomes for tiny, sub-microscopic deletions or duplications of DNA sequences, is often considered a second-tier test compared to karyotyping and Fragile X testing, the two most commonly used diagnostic tools for autism.

However, in a study of 933 patients with a clinical diagnosis of ASD, researchers from the Boston Children's Hospital and the Autism Consortium found that CMA identified genetic abnormalities in 7.3 percent of patients, while karyotyping and Fragile X testing yielded abnormal results in only 2.23 and 0.46 percent of cases respectively.

"CMA clearly detects more abnormalities than other genetic tests that have been the standard of care for many years," said senior co-author David Miller, who headed the Autism Consortium team. "We're hoping this evidence will convince insurance companies to cover this testing universally."

The research team estimated that without CMA, genetic diagnosis would be missed in approximately 5 percent of ASD cases.

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