New Genetic Autism Test Beats Older Tests

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."
CMA an 'Excellent' Test
The new study confirms smaller studies finding that CMA is an excellent
test, says Randi Hagerman, MD, medical director of the MIND Institute at
University of California, Davis, and an autism expert.
''This [new study] demonstrated that the CMA picked up abnormalities at a
much higher rate [than other tests]," says Hagerman, who reviewed the findings
for WebMD.
The patients studied, she says, were a relatively high functioning group of
people with ASD. That population, she says, ''reflects more closely what
clinicians are seeing now in their office." She says the rate of intellectual
disabilities of those with autism and ASD has gone down in recent years.
The bottom line of the study? "You should do genetic testing on everyone
with autism or ASD," Hagerman says. "That's been the recommendation for years."
With the new study findings, she says, the message is clear that "you should
include CMA."
Doing all three tests would be ideal, she says. But if you can only do two,
she would pick fragile X and CMA. If someone has autism or ASD, she says, the
CMA test "is the No. 1 test to yield an abnormal result."
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