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Autism Spectrum Disorders Health Center

New Genetic Autism Test Beats Older Tests

Study Shows CMA Test Is More Accurate Than G-Banded Karyotype or Fragile X
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WebMD Health News
Reviewed by Louise Chang, MD

March 15, 2010 -- A new genetic test for autism, known as chromosomal microarray analysis (CMA), finds more genetic abnormalities than two older tests, a study shows.

''CMA is much better than karyotyping or fragile X testing at detection -- it's at least three times better,"  Bai-Lin Wu, PhD, medical director of the genetics diagnostic laboratory at Children's Hospital, Boston, and a study co-researcher, tells WebMD.

While the other two tests are now standard practice, Wu and his colleagues say the new test should also be part of the initial diagnostic evaluation of patients when a clinical diagnosis of autism or autism spectrum disorder has been made or is suspected.

The study results are published online in Pediatrics.

Autism, a complex disorder, involves impairments in social interaction as well as deficits in language and communication along with rigid and repetitive behaviors. It affects about one person per 1,000, the researchers write; autism spectrum disorder (ASD) affects six per 1,000.

Comparing CMA With Other Tests

The researchers compared the results of the three tests in more than 800 patients. Among the findings:

  • The standard genetic test known as G-banded karyotype testing found abnormal results in 19 of 852 patients, or about 2%.
  • The fragile X testing found abnormalities in four of 861patients, or about 0.5%. (Fragile X syndrome is a condition associated with autism.)
  • The CMA test found abnormalities in 154 of 848 patients, or about 18%; 59 of these, or about 7%, were associated with possible or known genetic disorders. 

''Karyotype testing is looking for changes visible by the microscope," Wu, a clinical molecular geneticist, tells WebMD. "CMA is looking at the molecular level."

Wu and co-researcher Yiping Shen, PhD, assistant director of the genetics diagnostic laboratory, compare karyotype testing to a map that can detect a highway that's missing in a state, and CMA testing to a map that can detect individual highway exits that are missing.

In the study, Shen and his colleagues say that CMA ''should be considered as part of the initial diagnostic evaluation of patients with ASD."

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